We describe an unusual case of symptomatic eyelash entrapment in the subconjunctival space following a sub-Tenon's block. This case emphasizes the need for vigilance in patients reporting a persistent foreign-body sensation following surgery with this common modality of anesthesia.
We present the case of a 40-year-old man who developed progressive ataxia and palatal tremor (PAPT), in association with bilateral optic atrophy and upper motor neuron signs. MRI showed evidence of hypertrophy of the inferior olivary nuclei, marked cerebellar atrophy and bilateral optic nerve atrophy which was further supported by bilateral thinning of the retinal fibre layer detected using optical coherence tomography. No further pathological findings were detected. This syndrome has never been reported before. A wide range of differential diagnoses was excluded including spino-cerebellar ataxias type 1–8, 12 and 20, mitochondrial diseases including Leber9s hereditary optic neuropathy, autosomal dominant optic atrophy and polymerase gamma 1 POLG1 gene mutations. It is unclear whether PAPT with optic atrophy is a disease entity or yet another addition to the spectrum of PAPT phenotypes. The presentation will include a video of the clinical features.
Purpose This study takes a divergent approach to exploring which construct is more predictive of patient satisfaction (SAT) in a service dominant economy within the context of a healthcare setting. Design/methodology/approach Applying a critical analysis of literature, a service value (SV) model for customer SAT is proposed in this study, which is validated and confirmed with survey data from outpatients at Moorfields Eye Hospital – a world class specialist hospital based in the UK. Findings Quality of service had the strongest impact on SV but SV had the strongest impact and mediation effect on patient SAT. Research limitations/implications The study concludes that since SV rather than quality of service is more predictive of patient SAT, health service providers should focus more on SV in addition to quality of service, if they are to meet the dynamic expectations of their patients. Practical implications Health service providers should focus more on SV in addition to quality of service, if they are to meet the dynamic expectations of their patients. Social implications This poses a strong argument in favour of a paradigm shift in focus from quality of service-based model to service value-based model for greater patient satisfaction. Originality/value This is the first study exploring the inter-relationship of four constructs of patient SAT within the context of a leading major UK healthcare hospital service.
Background:Acronyms and abbreviations are playing an increasing role in the medical vernacular. Although many specialists frequently use shortened terms to accelerate communication in their letters, not all primary healthcare doctors fully comprehend such terms. Any misunderstanding in the interpretation of these abbreviations could have serious consequences upon patient care. Aim:The aim of this study was to look at the general practitioners’ (GPs’) understanding of terms commonly mentioned by ophthalmologists in their outpatient correspondence. Method:The study was based upon a healthcare survey model. A healthcare survey questionnaire detailing 12 acronyms in common usage by ophthalmologists was sent to 50 GPs in inner-city London with a view to the respondents explaining what they understood by the mentioned acronyms. Results:Thirty-two (64%) questionnaires were returned fully completed within two weeks; 63% of all the responses regarding the meaning of the acronyms were incorrect or left blank. Five (4.69%) of the responses were incorrectly explained, and only 37% of the total responses were correctly defined. Conclusions:The study suggested a degree of misunderstanding between the ophthalmologists and the GPs with reference to some of the acronyms used in their letters and discharge summaries. The study presented a number of approaches that may help avoid such confusion.
To characterize the retinal phenotype of juvenile neuronal ceroid lipofuscinosis (JNCL), highlight delayed and mistaken diagnosis, and propose an algorithm for early identification.Retrospective case series.Eight children (5 female) with JNCL.Review of clinical notes, retinal imaging including fundus autofluorescence and OCT, electroretinography (ERG), and both microscopy and molecular genetic testing.Demographic data, signs and symptoms, visual acuity (VA), fundus autofluorescence and OCT findings, ERG phenotype, and microscopy/molecular genetics.Participants presented with rapid bilateral vision loss over 1 to 18 months, with mean VA deteriorating from 0.44 logarithm of the minimum angle of resolution (logMAR) (range, 0.20-1.78 logMAR) at baseline to 1.34 logMAR (0.30 logMAR - light perception) at last follow-up. Age of onset ranged from 3 to 7 years (mean, 5.3 years). The age at diagnosis of JNCL ranged from 7 to 10 years (mean, 8.3 years). Six children displayed eccentric fixation, and 6 children had cognitive or neurologic signs at the time of diagnosis (75%). Seven patients had bilateral bull's-eye maculopathy at presentation. Coats-like exudative vasculopathy, not previously reported in JNCL, was observed in 1 patient. OCT imaging revealed near complete loss of outer retinal layers and marked atrophy of the nerve fiber and ganglion cell layers at the central macula. An electronegative ERG was present in 4 patients (50%), but with additional a-wave reduction, there was an undetectable ERG in the remaining 4 patients. Blood film microscopy revealed vacuolated lymphocytes, and electron microscopy showed lysosomal (fingerprint) inclusions in all 8 patients.In a young child with bilateral rapidly progressive vision loss and macular disturbance, blood film microscopy to detect vacuolated lymphocytes is a rapid, readily accessible, and sensitive screening test for JNCL. Early suspicion of JNCL can be aided by detailed directed history and high-resolution retinal imaging, with subsequent targeted microscopy/genetic testing. Early diagnosis is critical to ensure appropriate management, counseling, support, and social care for children and their families. Furthermore, although potential therapies for this group of disorders are in early-phase clinical trial, realistic expectations are that successful intervention will be most effective when initiated at the earliest stage of disease.
•This is the largest series and longitudinal study in sector retinitis pigmentosa.•The genotypic spectrum of the disease is broader than previously reported.•The longitudinal data provided more accurate patient prognosis and counseling.•The study informed patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. PurposeTo determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling.DesignRetrospective case series.MethodsReview of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings.ResultsTwenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP.ConclusionsThe genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments. To determine the genetic background of sector retinitis pigmentosa (RP) natural history to better inform patient counseling. Retrospective case series. Review of clinical notes, retinal imaging including color fundus photography (CFP), fundus autofluorescence (FAF), optical coherence tomography (OCT), electrophysiological assessment (ERG), and molecular genetic testing were performed in patients with sector RP from a single tertiary referral center. Main outcomes measured were demographic data, signs and symptoms, visual acuity, molecular genetics; and ERG, FAF, and OCT findings. Twenty-six molecularly confirmed patients from 23 different families were identified harboring likely disease-causing variants in 9 genes. The modes of inheritance were autosomal recessive (AR, n=6: USH1C, n=2; MYO7A, n=2; CDH3, n=1; EYS, n=1), X-linked (XL, n=4: PRPS1, n=1; RPGR, n=3), and autosomal dominant (AD, n=16: IMPDH1, n=3; RP1, n=3; RHO, n=10), with a mean age of disease onset of 38.5, 30.5, and 39.0 years old, respectively. Five of these genes have not previously been reported to cause sector RP (PRPS1, MYO7A, EYS, IMPDH1, and RP1). Inferior and nasal predilection was common across the different genotypes, and patients tended to maintain good central vision. Progression on serial FAF was observed in RPGR, MYO7A, CDH23, EYS, IMPDH1, RP1, and RHO-associated sector RP. The genotypic spectrum of the disease is broader than previously reported. The longitudinal data provided will help to make accurate patient prognoses and counseling as well as inform patients' potential participation in the increasing numbers of trials of novel therapeutics and access to future treatments.
In 2013, as part of our genetic investigation of patients with inherited retinal disease, we utilized multigene panel testing of 105 genes known to cause retinal disease in our patient cohorts. This test was performed in a UK National Health Service (NHS) accredited laboratory. The results of all multigene panel tests requested between 1.4.13 and 31.8.14 were retrospectively reviewed. All patients had been previously seen at Moorfields Eye Hospital, London, UK and diagnosed with an inherited retinal dystrophy after clinical examination and detailed retinal imaging. The results were categorized into three groups: (i) Testing helped establish a certain molecular diagnosis in 45 out of 115 (39%). Variants in USH2A (n = 6) and RP1 (n = 4) were most common. (ii) Definitive conclusions could not be drawn from molecular testing alone in 13 out of 115 (11%) as either insufficient pathogenic variants were discovered or those identified were not consistent with the phenotype. (iii) Testing did not identify any pathogenic variants responsible for the phenotype in 57 out of 115 (50%). Multigene panel testing performed in an NHS setting has enabled a molecular diagnosis to be confidently made in 40% of cases. Novel variants accounted for 38% of all identified variants. Detailed retinal phenotyping helped the interpretation of specific variants. Additional care needs to be taken when assessing polymorphisms in genes that have been infrequently associated with disease, as historical techniques were not as rigorous as contemporary ones. Future iterations of sequencing are likely to offer higher sensitivity, testing a broader range of genes, more rapidly and at a reduced cost.
Objective Ultrasound scanning, serum CA125 and menopausal status have previously been combined in a risk of malignancy index for the differential diagnosis of adnexal masses. Although this approach has greater accuracy than either individual tests or clinical assessment, it has a significant false positive and false negative rate. Efforts have been directed at refining differential diagnosis and this study assessed the role of radioimmunoscintigraphy using the stripped mucin 3 (SM3) antibody that has a 17-fold greater uptake in malignant than benign ovarian tumours in vitro. Design Prospective study of patients with a pelvic mass using radioimmunoscintigraphy. Setting Department of Nuclear Medicine of St Bartholomew's Hospital in collaboration with Cancer Network. Population A total of 93 patients with pelvic masses were recruited for this study of which 32 had ovarian cancer and 61 had benign lesions. Methods Radioimmunoscintigraphy was performed with Tc-99m-labelled SM3 (600 MBq), anterior and posterior pelvis imaged at 10 minutes and at 4 and 24 hours and evaluated with change detection analysis and probability mapping. Main outcome measures Sensitivity and specificity of radioimmunoscintigraphy for ovarian cancer. Results Radioimmunoscintigraphy had a sensitivity for ovarian cancer of 84% (27 true positive and 5 false negatives) and a specificity of 87% (53 true negatives and 8 false positives) giving a negative predictive value of 91%. Conclusion These results suggest that radioimmunoscintigraphy could be used to reduce the number of false positive findings in a strategy to refine differential diagnosis of the pelvic mass.