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)

The case of a 63-year-old woman with mitochondrial myopathy with palpebral ptosis and nighttime nasal home oxygen therapy is reported. The patient successfully underwent outpatient vitrectomy with subconjunctival anesthesia, receiving no premedication or sedation during the operation. Subconjunctival analgesia was provided, with prior instillation of an anesthetic collyrium followed by subconjunctival injection of 1 ml of 0.4% bupivacaine and 2% lidocaine. Analgesia during surgery was satisfactory. We review the possibilities of using this technique in patients at high risk of presenting postoperative complications after general anesthesia, and discuss the possible side effects on musculature when peribulbar or retrobulbar anesthesia is provided.
 ...
PMID:[Subconjunctival anesthesia: an alternative for vitrectomy in mitochondrial myopathy]. 924 45

Myasthenia gravis and mitochondrial myopathy may present with similar clinical symptoms as inconstant palpebral ptosis, ophthalmoparesis, and muscle weakness. A few case initially diagnosed as myasthenia gravis by a positive decremental response on EMG and successful anticholinesterase therapy revealed to be affected by mitochondrial disease. We report a new case initially found to be affected by myasthenia gravis in whom muscle biopsy, performed because of symptom worsening, disclosed a mitochondrial myopathy. It is not clear if the association of mitochondrial myopathy and myasthenia gravis is coincidental or if there is a pathogenic link between the two pathologies. We suggest that muscle biopsy should be performed in cases with atypical myasthenia gravis signs.
 ...
PMID:A rare association of myasthenia gravis and mitochondrial myopathy: a clinical, biochemical and morphologic study of one case. 926 42

We studied prospectively 105 unselected patients complaining of ptosis and/or diplopia due to extrinsic ophthalmic muscle palsies without other neurological signs. All patients underwent the same diagnostic protocol. The presenting symptoms were: ptosis, 35 patients (33%); diplopia, 27 patients (26%); ptosis and diplopia, 43 patients (41%). The oculomotor nerve was most frequently involved, followed by the abducens nerve. The final diagnoses were: ocular myasthenia, intracranial and/or orbital pathology, thyroid ophthalmopathy, diabetic ophthalmoplegia, mitochondrial myopathy, oculopharyngeal muscular dystrophy. In 26 patients (25%) the cause remained undetermined. Our study confirms the difficulty of establishing an aetiological diagnosis in patients with isolated ocular palsies.
 ...
PMID:Ocular palsies in the absence of other neurological or ocular symptoms: analysis of 105 cases. 940 41

Two cases of chronic progressive external ophthalmoplegia were described. Both of them presented with progressive bilateral ptosis and gradual impairment of ocular mobility. One of the patients had abnormal cerebrospinal fluid protein level. Another patient had muscle biopsy which was compatible with mitochondrial myopathy. Other possible causes of chronic progressive external ophthalmoplegia had been excluded by appropriate investigations. Chronic progressive external ophthalmoplegia is now considered as one type of mitochondrial diseases. Missed diagnosis of this syndrome is common in clinical practice.
 ...
PMID:Chronic progressive external ophthalmoplegia. 947 Mar 33

A 14-year-old girl presented with a 3-month history of easy fatigue and exercise intolerance, especially when climbing stairs. She had a mild ptosis and mild limitation of upward gaze. Her puberty was delayed, and she manifested hypogonadotrophic hypogonadism. Serum lactic and pyruvic acids were elevated. Cranial magnetic resonance imaging was normal. Muscle biopsy documented typical ragged-red fibers. A point mutation at nucleotide 3243 in the tRNALeu(UUR) (typical mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) mutation) was detected in mitochondrial DNA from both blood and muscle tissues, indicating that our patient was suffering from a mitochondrial myopathy. Hypogonadism may be a manifestation of the MELAS nucleotide 3243 mutation.
 ...
PMID:mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl. 965 Jun 85

The A3243G mutation of mitochondrial DNA (mtDNA) has been shown to be responsible for or associated with mitochondrial myopathy, encephalopathy, lactic acidosis, strokelike episodes (MELAS) syndrome, diabetes mellitus (DM) and several other neuromuscular diseases. We used polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) to identify the A3243G mtDNA mutation and an electron microscope to examine mitochondrial derangement in the muscle biopsies of a 38-year-old man suspected to have MELAS syndrome with DM. We found great variability in the clinical presentation and in the proportion of mtDNA with the A3243G mutation in the matrilineal family members of the patient. The proband had atypical MELAS syndrome, recurrent vascular headache, and DM (MELASDM), and his mother manifested chronic progressive ptosis and DM (CPPDM). Brain magnetic resonance imaging of the proband showed high signal intensity in the left temporoparieto-occipital area on T2 weighted images (T2WI). The blood lactate level ranged from 2.32 to 4.70 mmol/l, and two-hour postprandial glucose ranged from 124 mg/dl to 148 mg/dl. The blood lactate and postprandial glucose of the proband's mother were 3.15 mmol/l and 192 mg/dl, respectively. Electron microscopic examination of a muscle biopsy of the patient showed abnormal mitochondria with decreased density of cristae and membrane degeneration. No ragged-red fibers were detected in muscle upon staining with modified Gomori trichrome. The hair follicles and blood cells of the patient and his mother showed the A3243G mutation in the tRNA(Leu)(UUR) gene. The proportions of the mutant DNA in the hair follicles and blood cells of the proband were 36.8% and 35.2%, respectively, and those of the patient's mother were 28.8% and 13.9%, respectively. We conclude that the A3243G mtDNA mutation may manifest with MELASDM or CPPDM in different matrilineal members of the same family as a result of differences in random segregation of the heteroplasmic A3243G mutant mtDNA in the affected tissues of patients.
 ...
PMID:Phenotypic heterogeneity in a Chinese family with mitochondrial disease and A3243G mutation of mitochondrial DNA. 1064 55

We present a boy of eight years of age with symptoms of Kearns-Sayre syndrome (KSS) characterised by ophthalmoparesis, palpebral ptosis, mitochondrial myopathy, pigmentous retinitis, associated to short stature, cerebellar signs, cardiac blockade, diabetes mellitus, elevated cerebrospinal fluid protein concentration, and focal hand and foot dystonia. The skeletal muscle biopsy demonstrated ragged red fibers, cytochrome C oxidase-negative and succinate dehydrogenase-positive fibers. The magnetic resonance imaging showed symmetrical signal alteration in tegmentum of brain stem, pallidum and thalamus. Mitochondrial DNA analysis from skeletal muscle showed a deletion in heteroplasmic condition. The association of dystonia to KSS, confirmed by molecular analysis, is first described in this case, and the importance of oxidative phosphorylation defects in the physiopathogenesis of this type of movement disorder is stressed.
 ...
PMID:Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. 1068 96

A 50-year-old woman who presented with infective bronchiectasis and respiratory insufficiency was reported. Mitochondrial myopathy was diagnosed from a long history of chronic bilateral ptosis and external ophthalmoplegia with muscle wasting. Muscle biopsy revealed ragged-red fibers. After treatment with appropriate antibiotic and respiratory assistance, the patient improved and returned to her usual state of health.
 ...
PMID:Mitochondrial myopathy with respiratory dysfunction: a case report. 1146 Sep 50

Mitochondrial myopathies are rare hereditary diseases that affect the energy functions of the mitochondria. Clinical manifestations are variable and sometimes multisystemic. Progressive external ophthalmoplegia constitutes the most frequent clinical form. Unfortunately, the diagnosis and the treatment of these mitochondrial abnormalities stay, today, even difficult. We report ophthalmic findings and the course of the disease in members of a family with chronic progressive external ophthalmoplegia presenting with severe acquired blepharoptosis. From study at the family background, the inheritance seemed autosomal dominant. In one case, a comprehensive workup, including muscular biopsy and molecular genetics disclosed a mitochondrial myopathy. During the 30-year follow-up, the patients were operated on for their ptosis several times, because of recurrences and uneven results.
 ...
PMID:[A familial case of chronic progressive external ophthalmoplegia associated with mitochondrial disease]. 1191 41

The charts of 10 patients affected by myogenic ptosis who underwent surgical correction by means of a frontalis suspension sling using a silicone rod were reviewed. The patients included in the study were affected by ptosis secondary to myasthenia gravis (MG), chronic progressive external ophthalmoplegia (CPEO) or mitochondrial myopathy (MM). In every patient the ptosis was severe (MRD( 1) < 2 mm), with the eyelid partially or totally occluding the visual axis; levator function was poor (<5 mm), Bell's phenomenon was poor or absent and the orbicularis function was reduced. Final eyelid height, patient satisfaction and the presence of complications were our main outcome measures. Analysis of the results showed that the ptosis was corrected in every patient with a clear visual axis. One patient with absent Bell's and poor levator function had exposure keratopathy resistant to medical treatment and required surgical revision. We believe that the frontalis suspension sling is safe, effective and is the procedure of choice for patients affected by poor-function acquired ptosis. A silicone rod, because of its elasticity, is the material of choice in this selected category of patients.
 ...
PMID:Frontalis suspension sling using a silicone rod in patients affected by myogenic blepharoptosis. 1218 12


<< Previous 1 2 3 4 5 6 Next >>