Gene/Protein Disease Symptom Drug Enzyme Compound
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 11,717 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case of oculopharyngeal muscular dystrophy in an elderly woman of French-Canadian background presenting with dysphagia is discussed. Typical features of the clinical presentation include bilateral ptosis and dysphagia with significant potential for morbid outcomes of aspiration pneumonia and malnutrition. Although relatively uncommon, this diagnosis should be considered in an elderly person with dysphagia, a history of ptosis, and the proper family background. Surgical treatment appears to improve the signs and symptoms of this disease.
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PMID:Oculopharyngeal muscular dystrophy as a cause of dysphagia in the elderly. 394 5

A 1-month-old boy was admitted because of failure to thrive. He was floppy and had bilateral ptosis, diminished reflexes, and poor suck. He had aspiration pneumonia, developed seizures, and died at age 3 1/2 months. Laboratory data showed lactic acidosis, proteinuria, glycosuria and generalized aminoaciduria. He was an only child, and family history was negative. Muscle biopsy showed large clumps of granules positive with oxidative enzyme stains and increased lipid droplets. Ultrastructural studies showed large aggregates of mitochondria, many of which were greatly enlarged and contained disoriented or concentric whorls of cristae and paracrystalline inclusions. Cytochrome c oxidase was absent in fresh frozen sections by histochemical staining. By biochemical assay, cytochrome c oxidase (cytochrome aa3) was 6% of normal in muscle biopsy and undetectable in autopsy muscle; spectra and content of cytochromes showed lack of cytochrome aa3, decreased cytochrome b and normal cytochrome cc1. In kidney, cytochrome-c-oxidase activity was 38% of normal and spectra showed decreased cytochromes aa3 and b. The association of fatal infantile mitochondrial myopathy, lactic acidosis and renal dysfunction was previously reported by Van Biervliet et al and appears to be a distinct nosologic entity, one of the few biochemically defined mitochondrial myopathies.
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PMID:Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency. 625 6

A family from eastern Switzerland with oculopharyngeal muscle dystrophy is described. The history shows seven affected persons in three generations. The inheritance pattern is autosomal dominant with complete penetrance. Bilateral ptosis and dysphagia, the hallmarks of the disorder, appear in the fourth decade and progess slowly. The late stage is characterized by ptosis, causing reclination of the head and marked upright posture. Dysphagia may be disabling, causing starvation, or, as in the index case, death by aspiration pneumonia. Surgical procedures are available to correct the ptosis and alleviate dysphagia.
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PMID:[Oculopharyngeal muscular dystrophy]. 647 19

A 30 year old woman bitten by a large Sri Lankan krait (Bungarus ceylonicus) developed progressive paralytic symptoms within one hour of the bite. After seeking traditional treatment her condition deteriorated and when she arrived at hospital 6 h after the bite she was drowsy, with bilateral ptosis and signs of aspiration pneumonia (a complication of traditional treatment). She developed an anaphylactic reaction after antivenom treatment and, despite treatment, had a cardio-respiratory arrest. She was resuscitated and mechanically ventilated, but remained deeply unconscious until her death 90 h after the bite. B. ceylonicus is endemic in Sri Lanka, is common in some areas, and could be mistaken for the common krait (B. caeruleus). It is doubtful whether any existing antivenom is effective against its venom.
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PMID:Neurotoxic envenoming by the Sri Lankan krait (Bungarus ceylonicus) complicated by traditional treatment and a reaction to antivenom. 829 76

Botulinum toxin A is the more efficient therapy of focal dystonias and hemifacial spasm. Our experience with botulinum toxin A injections in 115 patients is reported. Marked or total improvement was achieved in all 45 patients with hemifacial spasm, in 70% of 20 patients with essential blepharospasm and in 71.4% of 14 patients with Meige's syndrome. In 65.2% of 23 patients with cervical dystonia marked but no total improvement was obtained. The worse results were seen in the 6 patients with hand dystonia (writers cramp), in whom marked improvement was obtained in just two. Mild and transient complications occurred in up to 24.4%, eyelid ptosis and eyelid weakness being the most frequent. One patient with Meige's syndrome had an aspiration pneumonia following dysphagia. Our results are in agreement with others, showing that botulinun toxin A is a useful and safe treatment for these conditions.
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PMID:[Botulinum toxin A: experience in the treatment of 115 patients]. 962 4

Oculopharyngeal muscular dystrophy (OPMD) is an uncommon autosomal dominant disorder characterized by late onset and slow progression. Complications of OPMD include ptosis and progressive dysphagia leading to eventual malnutrition and aspiration. We report a rare case of OPMD complicating mechanical ventilator management following emergent surgery. OPMD and the resulting dysphagia contributed to multiple intubations, tracheostomy, aspiration pneumonia, and a prolonged hospital course. Awareness of the possibility of OPMD in intubated patients with a history of dysphagia is crucial for avoidance of complications.
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PMID:Oculopharyngeal muscular dystrophy complicating airway management. 1174 47

Bilateral hypoxic-ischaemic thalamic lesions are a rare type of neonatal encephalopathy with characteristic but often misinterpreted clinical features. This article describes history, clinical and diagnostic findings in a preterm and a term infant with hypoxic-ischaemic thalamic lesions after severe and abrupt intrauterine hypoxia. Both neonates presented with absent suckling and swallowing whereas other cranial nerves were unaffected. Characteristic findings in both newborns were profound muscular hypotonia and weak facial expressions together with feeding difficulties and frequent episodes of aspiration pneumonias. The term infant died at the age of 14 weeks following presumed aspiration pneumonia, the preterm infant, however, has developed severe extrapyramidal cerebral palsy. Absent suckling and swallowing with otherwise normal cranial nerve function appears to be characteristic of a bilateral hypoxic-ischaemic lesion of the thalamus. Animal experiments suggest that these lesions originate from a short but total ischaemia as it can be observed in cord prolapse or total placental abruption. Specific findings may initially be absent on ultrasound examination. Hence, magnetic resonance imaging of the brain should be performed on all patients with characteristic clinical symptoms even if the ultrasound scan is unremarkable. Evidence of bilateral ischaemic lesions of the thalamus usually indicates a poor prognosis.
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PMID:[Bilateral hypoxic-ischaemic thalamic lesions in newborns]. 1247 99

Oculopharyngodistal-myopathy (OPDM) is an autosomal dominant, heredofamilial myopathy accompanied with slowly progressive ptosis and extraocular palsy, and weakness of the masseter, facial, and bulbar muscles, as well as distal involvement of the limbs starting around 40 years of age or later. A 54-year-old female with OPDM underwent resection of the uterus for uterus body cancer. We speculated the patient might be at the risk of aspiration pneumonia, prolonged respiratory depression, and malignant hyperthermia, and chose spinal and epidural anesthesia. The operation was performed successfully and the patient was discharged uneventfully.
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PMID:[Anesthetic management of a patient with oculopharyngodistal-myopathy]. 1264 70

Chromosome 6 deletions are very rare (1,2), and deletion 6q syndrome is clinically characterized by mental and/or neuromotor retardation and microcephaly (3). Other alterations frequently observed are decreased biparietal diameter, hypertelorism, hypotelorism, absent eyebrows, prominent eyes with ptosis, receding chin, dysmorphic ears, large extremities, prominent nasal bridge, long philtrum, epicthus, strabismus, and micrognathia (3-5). Laryngomalacia is the most common congenital laryngeal anomaly and the most frequent cause of stridor in infants (6-11). We report the case of a 14-year-old male patient with both deletion 6q syndrome and laryngomalacia, who we treated for multiple dental caries. He had a medical history of tracheotomy at age 11 years for laryngomalacia, and has suffered from epileptic attacks and aspiration pneumonia over the last 2 and 6 years, respectively. Since he was mentally retarded and in a poor respiratory state, dental treatment under general anesthesia was scheduled in our hospital. General anesthesia was induced and maintained using 30% nitrous oxide and 1-3% sevoflurane in oxygen through the tracheotomy tube. Pre- and intraoperative endotracheal suction improved the condition of both lungs markedly and the procedures were uneventful and completed in 2 h and 58 min.
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PMID:General anesthesia for a patient with deletion 6q syndrome in addition to laryngomalacia undergoing dental treatment. 1910 80

A 45-year-old man was admitted to our hospital because of taste disorders in March 2014. He exhibited cervical muscle weakness and left eye ptosis, which responded to Tensilon test, and was diagnosed with myasthenia gravis (MG). He developed aspiration pneumonia and myasthenic crisis, which was treated with intravenous immunoglobulin and steroid pulse therapy. All symptoms disappeared. Oral administration of prednisolone and tacrolimus was started. Chest CT revealed thymoma and extended thymectomy was performed in May 2014. In December 2014, seven months after the thymectomy, hematological examination showed pancytopenia including severe neutropenia. We diagnosed his illness as aplastic anemia (AA). Cyclosporine therapy with transfusion was administerd and led to reticulocyte count recovery. Since May 2015, hemoglobin recovery reached a blood transfusion free period. To our knowledge, this is the first case report with the patient supposed of relationship among taste disorders, AA and thymoma-associated MG.
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PMID:[A case of myasthenia gravis with transient taste disorders followed by aplastic anemia after thymectomy]. 2687 9


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