Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0014118 (endocarditis)
 15,629 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Vascular access infection is a frequent problem in patients undergoing maintenance hemodialysis. Infection of arteriovenous fistula (AVF) is less common than dialysis catheter-associated infection. Previous case reports described endophthalmitis secondary to hemodialysis catheter-related infection, but not secondary to native AVF infection. We report a rare patient of endophthalmitis as a metastatic infection of AVF cannulation site abscess. A 19-year-old girl on maintenance hemodialysis for the past 2 years has presented with a history of fever, chills, and rigor of 3-days duration and painful dimness of vision in the left eye of 1-night duration. It was followed by redness of the eye, photophobia, and ocular discharge. On examination, the patient was febrile with an abscess near cannulation site of AVF. There was no perception of light in the left eye, conjunctiva was congested, cornea was clear, hypopyon present, and pupil was mid-dilated, not reacting to light. Lens was clear. Vitreitis and exudative retinal detachment was present. Methicillin sensitive Staphylococcus aureus was isolated from blood, pus from AVF abscess and vitreous fluid. Diagnosis of endophthalmitis was confirmed by B-scan ultrasound. She was treated with both intravenous and intraocular antibiotics and drainage of pus from AVF abscess and therapeutic vitrectomy. Though arteriovenous abscess responded to sensitive antibiotics and drainage, vision has not improved much. Strict aseptic precautions during regular AVF cannulation are required. Lapses may lead to loss of vision apart from described complications like access closure, endocarditis, and osteomyelitis.
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PMID:Endophthalmitis: a rare complication of arteriovenous fistula infection. 1839 55

The musculocontractural type of Ehlers-Danlos syndrome (MC-EDS) has been recently recognized as a clinical entity. MC-EDS represents a differential diagnosis within the congenital neuromuscular and connective tissue disorders spectrum. Thirty-one and three patients have been reported with MC-EDS so far with bi-allelic mutations identified in CHST14 and DSE, respectively, encoding two enzymes necessary for dermatan sulfate (DS) biosynthesis. We report seven additional patients with MC-EDS from four unrelated families, including the follow-up of a sib-pair originally reported with the kyphoscoliotic type of EDS in 1975. Brachycephaly, a characteristic facial appearance, an asthenic build, hyperextensible and bruisable skin, tapering fingers, instability of large joints, and recurrent formation of large subcutaneous hematomas are always present. Three of seven patients had mildly elevated serum creatine kinase. The oldest patient was blind due to retinal detachment at 45 years and died at 59 years from intracranial bleeding; her affected brother died at 28 years from fulminant endocarditis. All patients in this series harbored homozygous, predicted loss-of-function CHST14 mutations. Indeed, DS was not detectable in fibroblasts from two unrelated patients with homozygous mutations. Patient fibroblasts produced higher amounts of chondroitin sulfate, showed intracellular retention of collagen types I and III, and lacked decorin and thrombospondin fibrils compared with control. A great proportion of collagen fibrils were not integrated into fibers, and fiber bundles were dispersed into the ground substance in one patient, all of which is likely to contribute to the clinical phenotype. This report should increase awareness for MC-EDS.
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PMID:The phenotype of the musculocontractural type of Ehlers-Danlos syndrome due to CHST14 mutations. 2637 98