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)

Oculopharyngeal muscular dystrophy is an autosomal dominant myopathy that exhibits the symptoms of progressive dysphagia, with ptosis usually occurring after the age of 40. Literature review of this rare disease reveals a high incidence in the French-Canadian population, as well as in five other ethnic groups. Our article details the clinical history and genealogy of the disease through four generations in a family of English descent. Radiographic studies show a cricopharyngeal bar and aspiration. Results of electron microscopic examination of muscle biopsy specimens from the vastus lateralis and cricopharyngeus muscles confirm a chronic, active, severe, myopathic process that is more pronounced in the cricopharyngeus muscle. The recommended treatment for blepharoptosis and the cricopharyngeus muscle pathosis is discussed.
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PMID:Oculopharyngeal muscular dystrophy: clinical and histopathologic correlations. 310 51

The authors describe two cases of the rare disease lymphangioma hemifaciale. Every ophthalmologist should know this disease in view of the complications such as hemorrhage or erysipelas. Treatment methods are discussed. Furthermore, lymphangioma must be taken into consideration in the differential diagnosis of ptosis, protrusio bulbi, protrusio conjunctivae and congenital hemifacial hypertrophy.
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PMID:[The special problems of lymphangioma perioculare and hemifaciale (author's transl)]. 744 56

The solitary rectal ulcer is a rare disease localized not only in the rectum but in other colonic tracts. It more frequently appears in female, the age preferred by the disease is the one between twenties and thirties. The 68% of ulcers is localized in the anterior wall of rectum and her length varies from 4 to 15 cm. The S.R.U. is a benign chronic disease that does not pass the muscularis mucosae, originated by an alteration of the mechanism of defecation with a prolapse of mucosa. Nowadays the therapy must by addressed to treat the prolapse and not the ulcer. The Authors report a case recently observed and after a review of the literature, analyze anatomo-clinic, etiopathogenetic and therapeutic aspects of the disease.
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PMID:[Solitary rectal ulcer (a case report)]. 766 3

Here we present a 53-year-old woman with rheumatoid pachymeningitis. The subject had rheumatoid arthritis (RA) for 15 years. In April, 1996 she began to experience intermittent headaches. In September, her headaches became severe and continuous. In October, she suddenly developed ptosis of the left eye and diplopia. She also started to have dysphagia and she found it increasingly difficult to eat. She was admitted to our hospital on November 1, 1996. Neurological examinations revealed palsies of the left IIIrd, IVth, and VIth, and bilateral IXth, and Xth cranial nerves. Laboratory findings showed leukocytosis, elevated blood sedimentation rate, and positive CRP. Serum RA titer was positive (30x). The cerebrospinal fluid was normal and bacteriological examination was negative. T1-weighted MRI demonstrated hypertrophic cranial dura extending from the falx cerebri to tentorium cerebelli, which was enhanced markedly by Gd-DTPA. The dura adjacent to the cavernous sinus and the clivus were also thickened, which probably caused her cranial polyneuropathies. The dural biopsy showed massive infiltration of the inflammatory cells throughout the dura, proliferation of collagen fibers, and necrotic granuloma with neutrophilic infiltrations. Neither rheumatoid nodules, nor vasculitis were found. Despite the absence of rheumatoid nodules in the dural biopsy, the clinical features, pathologic specimens, and MRI findings of the thickened dura were most consistent with rheumatoid pachymeningitis. Administration of dexamethason ameliorated her headache on the 4th hospital day, and the cranial polyneuropathies completely disappeared on the 35th hospital day. The dural enhancement previously seen on the contrast T1-weighted MRI was diminished. Serum RA titer was also normalized (10x). Rheumatoid pachymeningitis is an extremely rare disease, and only 16 cases were reported in the literatures. Hypertrophic pachymeningitis should be considered as a diagnostic possibility in RA patients who have prolonged headache, and Gd-DTPA MRI is recommended to demonstrate the dural involvement.
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PMID:[A case of rheumatoid pachymeningitis]. 943 Oct

Oculopharyngeal muscular dystrophy is a rare disease, presenting with bilateral ptosis and dysphagia, followed by slow progressive muscle weakness. The pathological hallmark of the disease is the presence of intranuclear inclusions in muscle cells. Inheritance is autosomal dominant in almost all cases. The mutation responsible is a short guanine-cytosine-guanine (GCG) expansion in the 'poly adenylate binding nuclear I protein' (PABN1) gene. This expansion is stable in subsequent generations and is translated into a polyalanine tract. The aberrant protein is found within the intranuclear inclusions and interferes with normal mRNA function.
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PMID:[From gene to disease; the PABN1 gene and oculopharyngeal muscular dystrophy]. 1675 25

Myotonic dystrophy (MD) is rare disease that offers challenges to anesthesiologists. We report a case of adult patient with myotonic dystrophy who underwent laparoscopic cholecystectomy. A 48-year-old male patient, known case of MD, was presented for laparoscopic cholecystectomy. Physical examination revealed, young man, calm, quite, cooperative, not in pain or distress with frontal baldness, temporal bone recession, elongated face, mild degree of ptosis and swan neck. Under complete aseptic conditions, thoracic epidural T6-7 with catheter insertion was performed while the patient was placed on left lateral side. Plain bupivacaine 0.5% 7cc was injected through the catheter. Level of analgesia tested with ice reached up to T4. Intravenous sedation was achieved with midazolam 2 mg and ketamine 50 mg. The patient was comfortably lying supine on warm heated mattress, except of bilateral shoulder pains which was relieved with midazolam and ketamine. In conclusion, regional anesthesia, spinal or epidural, is preferable in MD patients. Shoulder pains is the main intraoperative problem encountered in our patient. Therefore, studies are needed for treating shoulder pain. To the best of our knowledge, this is the first case report in a patient with MD who underwent laparoscopic cholecystectomy under thoracic epidural analgesia. Myotonic dystrophy (M) is rare disease and represents challenges to anesthesiologists. We report a case of adult patient with myotonic dystrophy who underwent laparoscopic cholecystectomy.
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PMID:Anesthetic management of a patient with myotonic dystrophy for laparoscopic cholecystectomy--a case report. 1863 13

Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant syndrome of eyelid malformations with (type I) or without (type II) associated premature ovarian failure. Multiple mutations in the exon and the putative core promoter region of FOXL2 gene encoding a putative forkhead transcription factor have been linked to this disease. To examine whether FOXL2 gene mutations contribute to BPES in the Chinese patient population, we screened 33 patients from 18 Chinese families with BPES of unknown types, together with 57 healthy individuals, including 27 relatives of the affected families. Genomic DNA was extracted from the participants' peripheral blood leukocytes, and amplified by polymerase chain reaction for various regions of the FOXL2 gene, followed by sequencing analysis. Ten mutations in the FOXL2 gene were detected: four were previously reported (g.1041_1042insC, g.1366_1367insT, g.909_938dup30, and g.900_929dup30), and six were novel ones (g.406T>A, g.-14G>A, g.1108_1109insC, g.2577C>T, g.1987C>A, and g.1002C>G). Among them, mutations in the coding region for the polyalanine tract, as well as novel mutations in the core promoter, the 3'-UTR, and in the forkhead domain were identified. Our results expanded the spectrum of FOXL2 mutations in BPES and provided additional valuable genetic information for this rare disease.
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PMID:Mutations of the transcription factor FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome. 1937 Dec 27

Orbital apex syndrome (OAS) is a rare disease that presents with a complex of symptoms, including ophthalmoplegia, ptosis and visual loss. Due to the poor prognosis, making a prompt diagnosis and administering the appropriate treatment must be initiated without delay if OAS is suspected. We report here on a case of a patient with sphenoid fungal balls, and he presented with acute visual loss and ophthalmoplegia.
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PMID:Orbital apex syndrome in a patient with sphenoid fungal balls. 1943 93

A right-sided aortic arch with an aneurysm of the aberrant subclavian artery is a rare disease. We report a case of Kommerell's diverticulum of an aberrant left subclavian artery in a patient with a right-sided aortic arch. Fewer than 50 cases have been reported in the literature. A number of operative strategies are described. Right thoracotomy provides good exposure and avoids the morbidity associated with bilateral thoracotomy or sternotomy and thoracotomy. In our patient with symptoms of dysphagia, syncope, and left subclavian steal syndrome, a left thoracotomy was used. The repair was accomplished by division of a left ligamentum arteriosum, obliteration of the Kommerell's aneurysm, and an aorto-subclavian bypass. Postoperative complications included left vocal cord palsy and Horner's syndrome. Hoarseness and left ptosis recovered spontaneously 3 months after surgery, and the patient remained symptom-free at the 1-year follow-up. We believe a left thoracotomy for direct repair of Kommerell's diverticulum is a simple and safe method without the increased morbidity found in other procedures.
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PMID:A right-sided aortic arch with Kommerell's diverticulum of the aberrant left subclavian artery presenting with syncope. 1946 53

Idiopathic spinal cord herniation is a rare spinal cord disorder caused by spinal cord prolapse through a adural defect. It is a curable disease, so early detection is of particular importance. We report a 38-year-old woman with Brown-Sequard syndrome which was caused by the thoracic spinal cord herniation. Her weakness was almost completely resolved after surgical management, which emphasizes the importance of early diagnosis and surgical management in this rare disease entity.
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PMID:Idiopathic spinal cord herniation as a treatable cause of progressive brown-sequard syndrome. 1951 34


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