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1.
BMJ Case Rep ; 15(12)2022 Dec 05.
Article in English | MEDLINE | ID: mdl-36593599

ABSTRACT

Endogenous endophthalmitis (EE) is a rare infectious disease of the intraocular tissues with a major risk of significant visual loss. We describe a case of a female patient who presented with altered mental status and vision loss. The patient was found to have bacteraemia, meningitis and bilateral EE caused by Streptococcus dysgalactiae spp equisimilis The patient was clinically stabilised but continued to demonstrate profound visual loss at 5-month follow-up. To our knowledge, this is the first case report of this organism causing meningitis complicated by EE. Furthermore, this infection may have heralded a diagnosis of cancer.


Subject(s)
Endophthalmitis , Meningitis , Streptococcal Infections , Humans , Female , Streptococcal Infections/complications , Streptococcal Infections/diagnosis , Streptococcal Infections/drug therapy , Endophthalmitis/diagnosis , Endophthalmitis/complications , Blindness/etiology , Meningitis/complications , Meningitis/diagnosis
2.
J Healthc Qual ; 42(5): e58-e65, 2020.
Article in English | MEDLINE | ID: mdl-31917712

ABSTRACT

PURPOSE: The quality of visual acuity (VA) measurement in emergency department (ED) settings can be affected by patient immobility and lack of standardized testing conditions. We implemented a previously validated, novel VA chart, the Runge Sloan letter near card, in a hospital ED and evaluated its impact on frequency and consistency of VA testing. METHODS: Two hundred seventeen hospital ED ophthalmology consult records from December 1, 2016, to November 15, 2017, were evaluated in an IRB-approved protocol. Frequency of VA measurement and agreement between nonophthalmic ED technicians and ophthalmology physicians-in-training were assessed. RESULTS: Implementation of the Runge card saw missed technician VA evaluations decrease from 36% (43/120) to 21% (20/97) of ophthalmic consults (p = .01), without significant change in agreement of VA measurements. After implementation, the proportion of VA measurements differing between technicians and residents by ≤2 lines was 51%; with pinhole testing, it improved to 64% (p < .05). In patients with good VA of >20/80, pinhole increased agreement from 58% to 73% (p < .05). CONCLUSIONS: Implementation of the Runge card was associated with improved frequency of VA measurement and, when combined with pinhole testing, increased agreement rates. Our findings suggest utility of training in the use of the Runge card in ED settings.


Subject(s)
Emergency Service, Hospital/standards , Eye Diseases/diagnosis , Ophthalmology/standards , Referral and Consultation/standards , Vision Tests/methods , Vision Tests/standards , Visual Acuity , Female , Humans , Male , Practice Guidelines as Topic , Wisconsin
3.
Pediatr Nephrol ; 28(11): 2221-5, 2013 Nov.
Article in English | MEDLINE | ID: mdl-23880784

ABSTRACT

BACKGROUND: Mutations in complement factor H (CFH) are associated with complement dysregulation and the development of an aggressive form of atypical hemolytic uremic syndrome (aHUS) that progresses to end-stage renal disease (ESRD) and in most patients has a high rate of recurrence following transplantation. Sequence analysis of CFH and its downstream complement factor H-related genes (CFHR1-5) reveals several macrohomologous blocks caused by large genomic duplications. This high degree of sequence identity renders this area susceptible to nonallelic homologous recombination (NAHR) events, resulting in large-scale deletions, duplications, and the generation of hybrid CFH genes. CASE-DIAGNOSIS: Here, we report the finding of a novel CFHR1/CFH hybrid gene created by a de novo NAHR event in a 14-year-old girl with aHUS. The resulting fusion protein contains the first three short consensus repeats (SCRs) of CFHR1 and the terminal two SCRs of CFH. CONCLUSIONS: This finding demonstrates a novel pathogenic mechanism for the development of aHUS. Additionally, since standard Sanger sequencing is unable to detect such rearrangements, all aHUS patients should receive comprehensive genetic screening that includes analysis of copy number variation in order to identify patients with poor clinical prognoses.


Subject(s)
Complement C3b Inactivator Proteins/genetics , Complement Factor H/genetics , Hemolytic-Uremic Syndrome/genetics , Antibodies, Monoclonal, Humanized/therapeutic use , Autoantibodies/analysis , Blotting, Western , Child , Creatinine/blood , DNA/genetics , Female , Gene Amplification , Humans , Immunosuppressive Agents/therapeutic use , Kidney Transplantation , Polymerase Chain Reaction , Renal Dialysis
4.
Blood ; 122(8): 1487-93, 2013 Aug 22.
Article in English | MEDLINE | ID: mdl-23847193

ABSTRACT

Complement dysregulation leads to atypical hemolytic uremic syndrome (aHUS), while ADAMTS13 deficiency causes thrombotic thrombocytopenic purpura. We investigated whether genetic variations in the ADAMTS13 gene partially explain the reduced activity known to occur in some patients with aHUS. We measured complement activity and ADAMTS13 function, and completed mutation screening of multiple complement genes and ADAMTS13 in a large cohort of aHUS patients. In over 50% of patients we identified complement gene mutations. Surprisingly, 80% of patients also carried at least 1 nonsynonymous change in ADAMTS13, and in 38% of patients, multiple ADAMTS13 variations were found. Six of the 9 amino acid substitutions in ADAMTS13 were common single nucleotide polymorphisms; however, 3 variants-A747V, V832M, and R1096H- were rare, with minor allele frequencies of 0.0094%, 0.5%, and 0.32%, respectively. Reduced complement and ADAMTS13 activity (<60% of normal activity) were found in over 60% and 50% of patients, respectively. We concluded that partial ADAMTS13 deficiency is a common finding in aHUS patients and that genetic screening and functional tests of ADAMTS13 should be considered in these patients.


Subject(s)
ADAM Proteins/deficiency , ADAM Proteins/genetics , Hemolytic-Uremic Syndrome/blood , Hemolytic-Uremic Syndrome/genetics , ADAMTS13 Protein , Adolescent , Adult , Alleles , Atypical Hemolytic Uremic Syndrome , Autoantibodies/immunology , Child , Child, Preschool , Cohort Studies , Complement Factor H/immunology , DNA/genetics , Female , Humans , Infant , Male , Mutation , Polymorphism, Genetic , Recombinant Fusion Proteins/metabolism , Young Adult
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