Vitamin C Deficiency as a Mimicker of a Coagulation Disorder.

Scurvy is caused by vitamin C deficiency and is often thought of as an ancient malady. However, it still afflicts present-day patients with insufficient nutrition, excessive alcohol consumption and disorders of absorption. Scurvy is traditionally characterised by ecchymosis, petechiae, haemorrhages, poor wound healing, myalgias and arthralgias, but it can also present with non-specific symptoms, including mood changes, fatigue, malaise and dyspnoea. Although scurvy can present with signs of excess bleeding, it does not involve blood clotting. We present a case of concurrent scurvy and pulmonary embolism in which clinical presentation and laboratory findings mimicked a coagulation disorder, resulting in delayed diagnosis and excessive resource expenditure. This case underscores the importance of obtaining an early dietary and substance use history in patients with unexplained haematological symptoms. These crucial components of history-taking can significantly reduce invasive and costly tests, resulting in quicker diagnosis and enhanced patient outcomes.

THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.

BACKGROUND/PURPOSE: To characterize the progression of structural and functional changes in the retinas of a small cohort of unrelated patients with early late-onset retinal degeneration and evaluate these changes as potential biomarkers for future treatment trials. METHODS: Best-corrected visual acuity, contrast sensitivity, Goldman visual fields, retinal sensitivity measurement by mesopic microperimetry, extent of ellipsoid zone disruption using spectral domain optical coherence tomography, and fundus autofluorescence imaging were performed at each biennial visit. PATIENTS: Three unrelated patients with molecularly confirmed late-onset retinal degeneration (S163R mutation in C1QTNF5 ) were prospectively followed for 4 years. RESULTS: The patient's ages were 44, 54, and 62 at baseline. Over the 4-year follow-up period, one patient demonstrated a significant reduction in best-corrected visual acuity (6 Early Treatment of Diabetic Retinopathy Study letters), whereas two patients suffered a significant reduction in contrast sensitivity. Early in the disease, there was a close relationship between ellipsoid zone disruption and a loss in retinal sensitivity. Later in the course of the disease, there were areas outside the zones of ellipsoid zone disruption that also suffered progressive loss of retinal sensitivity, suggesting that ellipsoid zone loss was not the only factor responsible for the loss of retinal sensitivity. Changes in fundus autofluorescence and Goldman visual field loss were not closely related to changes in ellipsoid zone disruption or retinal sensitivity loss. CONCLUSION: This study has found that the monitoring of the progression of ellipsoid zone disruption and changes in mesopic microperimetry may be useful biomarkers in future clinical trials in patients with late-onset retinal degeneration.

Long-term follow-up of a patient with JAG1-associated retinopathy.

PURPOSE: To report the long-term structural and functional changes in the posterior segments of an adult with an unusual retinal dystrophy caused by a novel mutation in JAG1. METHODS: A 33-year-old female underwent comprehensive ophthalmic examination, including best corrected visual acuity (BCVA) measurement, dilated fundus imaging (wide-angle fundus colour and short wavelength autofluorescence imaging), macular and peripheral spectral-domain optical coherence tomography (SD-OCT) and electroretinography (ERG) at baseline and 10 years later at the age of 43. The patient also underwent systemic review with detailed cardiac, brain and renal investigations. During follow-up, genetic analysis using whole-exome sequencing was performed on the patient and her parents to identify disease-causing variants. RESULTS: The patient's main complaint was of a recent onset of bilateral photophobia and blurred vision in the left eye. On examination, the most striking retinal finding was of bilateral well-demarcated, anterior circumferential chorioretinal atrophy with scattered pigment clumping from the mid periphery to the ora. In addition, she had posterior pole RPE hypopigmentation, peripapillary chorioretinal atrophy, left macular choroidal folds and retinal vasculature tortuosity with atypical branching. Her retinal electrophysiology was consistent with a cone rod photoreceptor dystrophy and left macular dysfunction. Ten years later, her BCVA, the anterior circumferential chorioretinal atrophy and her visual field constriction all remained stable. Her retinal electrophysiology demonstrated deterioration of left rod function, while cone dysfunction remained stable. Macular function deteriorated in both eyes. During follow-up, she was also noted to have progressive aortic root dilatation, posterior embryotoxon and an x ray diagnosis of butterfly vertebrae. Whole-exome sequencing revealed a novel c.2412C > A p.(Tyr804Ter) truncating mutation in JAG1 that was predicted to be pathogenic and suggested a diagnosis of Alagille syndrome. CONCLUSION: This is the first report of the long-term detailed follow-up of a patient with Alagille syndrome whose most striking ophthalmic finding was bilateral well-demarcated, anterior circumferential chorioretinal atrophy. During follow-up, this finding remained stable, suggesting that this may be developmental in origin. This is in contrast with the progressive deterioration in the posterior pole retinal and macular function.

Intravitreal Aflibercept for Retinal Angiomatous Proliferation: Results of a Prospective Case Series at 96 Weeks.

INTRODUCTION: Retinal angiomatous proliferation (RAP) is a subtype of neovascular age-related macular degeneration (nAMD). Untreated, the lesions are thought to be aggressive and lead to a poor visual outcome. Despite some limitations, studies reporting the treatment of RAP lesions with the intravitreal anti-VEGF drugs ranibizumab and bevacizumab have demonstrated variable but generally favourable responses. More recently, aflibercept has been licensed for the treatment of nAMD and may offer some advantages over other agents. We present the visual and anatomical outcomes at 96 weeks of patients with RAP lesions who were treated with intravitreal aflibercept, according to the pivotal VIEW study nAMD treatment protocol. METHODS: This is a prospective study of treatment-naïve patients with Reading Centre-graded RAP lesions. The patients received aflibercept every 8 weeks, after 3 initial monthly injections, up to and including week 48. During weeks 52-96, patients received injections at least every 12 weeks, with monthly evaluations for interim injections if they fulfilled the retreatment criteria. At each visit, best-corrected visual acuity (BCVA) and optical coherence tomography (OCT) central macular thickness (CMT) were measured. RESULTS: Forty-six patients reached study completion at week 96. Mean BCVA had improved by 6.0 (standard deviation [SD] 7.9) and 4.8 (SD 7.4) ETDRS letters at 52 (p = 0.003) and 96 (p = 0.02) weeks, respectively, from a baseline of 57.3 (SD 12.0) letters. At 52- and 96-week time points, 45/46 (98%) and 41/46 (89%) of patients, respectively, had maintained their vision (<15 letters of BCVA lost). At the 96-week time point, 13/46 (28%) of patients had gained ≥15 letters and also demonstrated a mean reduction in CMT of 162 µm (SD 106) (p = <0.0001), with 72% of maculae being fluid-free. Using univariate analysis, we found no significant difference between any of the visual outcome measures in this study and the pivotal VIEW study; the mean number of injections required and change in CMT were also similar. CONCLUSIONS: In this study, we present the 96-week results, of the largest series to date, of patients treated prospectively with aflibercept for RAP using the VIEW protocol. We show that they benefited from treatment to a degree similar to those with type 1 and 2 nAMD.

Cataract surgery in patients with late-onset retinal degeneration.

PURPOSE: To review the outcomes in a series of patients with long anterior lens zonular fibers associated with late-onset retinal degeneration who had phacoemulsification cataract surgery. SETTING: Newcastle Eye Centre, Newcastle upon Tyne, United Kingdom. DESIGN: Retrospective case series. METHODS: Inclusion criteria were patients with genetically confirmed late-onset retinal degeneration requiring cataract surgery. Perioperative data relating to surgery were collected. In addition, the corrected distance visual acuity (CDVA) and retinal imaging data were recorded. Selected lens capsules were examined using immunohistochemistry or scanning electron microscopy (SEM). RESULTS: Eleven eyes of 7 patients were included. The long anterior lens zonular fibers made capsulorhexis challenging; however, it was completed safely in all cases. There were no intraoperative or postoperative issues with lens stability. The CDVA improved postoperatively in those cases with intact foveal photoreceptors and retinal pigment epithelium. Over the longer term, the CDVA slowly declined because of progressive atrophy of the macula. Most patients noticed a subjective improvement in vision, even those with advanced disease at baseline. Immunohistochemistry showed that the C1QTNF5 protein was expressed within the lens capsule epithelial cells, although SEM of the long anterior lens zonular fibers showed them to be smaller in diameter than normal anterior lens zonular fibers and to be composed of a helix of fibers. CONCLUSIONS: In this small series of patients with late-onset retinal degeneration, cataract surgery was successfully performed without long-term complications involving intraocular lens stability. The objective improvement in CDVA seemed to be limited to patients with good foveal photoreceptor architecture.

A dyadic and longitudinal investigation of adjustment in couples coping with multiple sclerosis.

BACKGROUND: Multiple sclerosis (MS) can affect adjustment at both the individual and couple level. PURPOSE: This study examined differences and associations between MS patient and spouse adjustment, and whether one partner's adjustment predicts the other partner's adjustment over time. METHODS: A total of 160 couples at Time 1 and 98 couples at Time 2 completed questionnaires. RESULTS: Mixed-model ANOVAs found that patients reported poorer adjustment than their spouse on a range of adjustment indicators and that positive affect and relationship satisfaction declined over time for both patients and spouses. Intraclass correlations found that patient and spouse scores on all adjustment indicators were related at Time 1. Multilevel modelling showed that one's partner's relationship satisfaction at Time 1 positively predicted one's own relationship satisfaction at Time 2. CONCLUSIONS: The findings indicate that a focus on the interpersonal nature of adjustment to MS may be beneficial for future research and practice.

A phenomenological perspective on advanced practice nurse-physician collaboration within an interdisciplinary healthcare team.

PURPOSE: To investigate how advanced practice nurses (APNs) and physicians (MDs) within a multisite nursing home practice perceive and describe their experiences of collaboration in an interdisciplinary team. DATA SOURCES: A phenomenological analysis of in-depth interviews of eight APNs and five MDs working in team practice across multiple nursing homes. CONCLUSIONS: This phenomenological analysis reveals that the lived experience of these professionals affirms four thematic clusters (meaning units) as essential for collaboration: approachability, interpersonal skills, listening, and verbal message skills. However, APNs and MDs diverge in their perceptions of the behaviors currently operative or required to achieve the collaboration components sought. The invariants-that without which a phenomenon cannot be-differ for APNs and MDs. IMPLICATIONS FOR PRACTICE: Although both parties reference identical terms, when the language is unpacked, different behaviors are sought by APNs and MDs to achieve collaboration. This suggests that discussions concerning collaboration between APNs and MDs should not remain at the level of generalizations wherein apparent agreement might be assumed; instead, focused exchanges must concern specific behaviors in discrete instances.

Negotiating transformational leadership: a key to effective collaboration.

Transformational leadership is important because it provides not only direction but it also creates opportunities for professional development. This qualitative investigation explored how medical doctors, in order to be transformative, should negotiate with advanced practice nurses while working in collaboration with them. The results first suggest that medical doctors and advanced practice nurses should negotiate appropriate levels of supervision in their working relationship commensurate with the education and experience that the advanced practice nurses bring to the practice. Second, mentoring should be a reciprocal communication process between medical doctors and advanced practice nurses, where thoughtful feedback facilitates appropriate adjustments in respective communication and time management styles. Third, educating necessitates mutual learning, with each party acknowledging the possibility of learning from the other and being sensitive to the value of what the other contributes to the working relationship. The authors conclude that effective leadership involves negotiating along these dimensions, which will contribute to effective team-building.

Point counterpoint: the function of contradictions on an interdisciplinary health care team.

In this qualitative study we used Dialectical Theory to analyze contradictions occurring between medical doctors (MDs) and nurse practitioners (NPs) working collaboratively on a health care team. The analysis of interview data revealed contradictions in two areas: (1) NPs espouse a need for heightened autonomy in their working associations with medical doctors, whereas conversely, MDs emphasize a need for ongoing connection, and (2) MDs argue that NPs should be more proactive problem solvers and frame their working relationships as educational. However, NPs argue that MDs enact patterns of behavior that limit proactive problem solving and curtail the educational potential of those relationships, thus reinforcing predictable work routines. Both areas of contradiction constitute what dialectical theorist Leslie Baxter refers to as "oppositions." Examples of these oppositions are provided in the analysis. The study concludes with an assessment of how such contradictions might constitute developmental opportunities for NPs and MDs working in collaboration.

The collaborative healthcare team: tensive issues warranting ongoing consideration.

PURPOSE: To provide a qualitative assessment of those tensive issues that warrant ongoing consideration by physicians (MDs) and advanced practice nurses (APNs) currently working in professional pairings on an interdisciplinary healthcare team. DATA SOURCES: Verbatim transcripts of semistructured interviews from five MDs and eight APNs. Questions related to what MDs and APNs should expect from others in the practice; what characteristics were valued in the colleagues with whom they were paired; and what improvements might enhance their association. CONCLUSIONS: Tensive issues were identified in five categories including autonomy and interdependence, professional role expectations, flexible role enactment, proactive problem solving, and action learning. IMPLICATIONS FOR PRACTICE: By understanding the tensive issues that could potentially influence the quality of collaboration, MDs and APNs can consider communication measures geared toward strengthening their partnerships.