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There has been a large discussion in literature regarding the proper management of asymptomatic patients with significant carotid artery stenosis. This study aims to identify potential risk factors associated with high-risk carotid plaques.

Albinism is a congenital disorder where misrouting of the optic nerves at the chiasm gives rise to abnormal visual field representations in occipital cortex. In typical human development, the left occipital cortex receives retinal input predominantly from the right visual field, and vice-versa. In albinism, there is a more complete decussation of optic nerve fibers at the chiasm, resulting in partial representation of the temporal hemiretina (ipsilateral visual field) in the contralateral hemisphere. In this study, we characterize the receptive field properties for these abnormal representations by conducting detailed fMRI population receptive field mapping in a rare subset of participants with albinism and no ocular nystagmus. We find a nasal bias for receptive field positions in the abnormal temporal hemiretina representation. In addition, by modelling responses to bilateral visual field stimulation in the overlap zone, we found evidence in favor of discrete unilateral receptive fields, suggesting a conservative pattern of spatial selectivity in the presence of abnormal retinal input.

Emergency abdominal surgery is associated with poor patient outcomes. We studied the effectiveness of a national quality improvement (QI) programme to implement a care pathway to improve survival for these patients.

BackgroundIntra-arterial chemotherapy (IAC) for retinoblastoma has been documented as causing visual loss and ocular motility problems. A lack of safety data has precluded its acceptance in all centres.MethodsRetrospective cohort study of patients with retinoblastoma from 2013 to 2015 who had a healthy foveola and relapsed following systemic chemotherapy. All required IAC. The correlation of complications with doses of melphalan +/− topotecan used and putative catheterisation complications was assessed. Ocular complications were determined using vision, macular (including pattern visual evoked potentials (PVEPs)), retinal electroretinograms (ERGs) and ocular motility functions. Efficacy (tumour control) was also assessed.ResultsAll eyes had age appropriate doses of melphalan with five having additional doses of topotecan. Severe physiological reactions requiring adrenaline were seen in six patients during the catheterisation procedure. Difficulty was documented in accessing the ophthalmic artery in 7/27 catheterisations. The median/mean number of courses of chemotherapy was three. No child had severe visual loss as assessed by age appropriate tests (median follow-up 20.9 months, range 3.7–35.2 months). One child had nasal choroidal ischaemia and a sixth nerve palsy. Post-IAC PVEPs were performed in eight and reported as normal. All post-IAC ERGs were normal apart from one (total dose 20 mg melphalan 0.8 mg topotecan). Tumour control was achieved in six of nine cases.ConclusionThe proportion of visual and ocular motility complications may be reduced by providing age-adjusted doses of melphalan. Dose rather than complications from catheterisation is the most important risk factor for ocular injury.

ABSTRACTPurpose:To report four cases of early onset sixth-nerve palsy all of whom had eccentric fixation.Methods:A retrospective case note review was undertaken of all cases presenting to the senior author's private and NHS practice with early onset sixth palsy between 2006 and 2012. As well as demographic information, details of ophthalmic, orthoptic, electrophysiological examinations, and radiological investigations that were extracted from the records.Results:Four children with unilateral or asymmetric early onset sixth-nerve palsy were identified, of which three were congenital. All four had MRI and only one had a normal MRI. Age at presentation ranged from 14–42 months, but all four had marked esotropia and poor visual acuities in the worst affected eye with eccentric fixation, which became more easily or only noticeable after surgical correction. Three patients with congenital sixth-nerve palsy underwent vertical muscle transposition with Botulinum Toxin A(BTXA) to the ipsilateral medial rectus, and two of these patients also had Foster sutures to the transposed vertical muscles. The fourth patient had unilateral medial rectus recession and lateral rectus resection. The mean preoperative measurement was 55ΔET (range 50–60Δ), and the mean postoperative measurement was 11ΔET (range 16XT-25ET) at near, and 2ΔXT (range 15XT-14ET) at distance.Conclusions:We speculate that early onset paralytic strabismus due to congenital sixth-nerve palsy results in an inability to cross fixate which results in the development of eccentric fixation. Attempts to use reverse occlusion to negate the eccentric fixation failed. We therefore recommend early surgery for this condition to avoid this sequelae.

Transanal stapling, or circumferential mucosectomy, is one of several well-established techniques for the treatment of haemorrhoids and rectal prolapse. We report a rare complication following the procedure and discuss related issues emerging from our review of the current literature. We report the case of a 50-year-old woman who presented with a pelvic mass. She had undergone stapled haemorrhoidectomy seven years previously. Physical examination and imaging established the presence of a rectal cyst thought to be the result of the stapling procedure. Following unroofing of the cyst, the symptoms resolved completely. We also present a literature review following a search of the Pubmed database for relevant reports up to December 2015. All case reports and case series were included, without any restriction in terms of language or publication status. Twenty-five similar cases were published up to December 2015. A review of the papers showed a universal approach for the diagnosis and treatment of this rare complication Rectal cyst formation is an infrequent complication of stapled haemorrhoidectomy. Nonetheless, the emergence of symptoms follows a recognizable pattern. In the first three months following surgery, pain is the dominant feature while in patients developing symptoms later, obstructive constipation is the commonest manifestation. Surgeons adopting the procedure are aware of this complication but may neglect making full use of magnetic resonance imaging (MRI) and other advanced techniques to facilitate diagnosis. Unroofing of the cyst using the transanal approach offers a worthwhile treatment option.

Supplemental Digital Content is Available in the Text.Disrupted autophagy associated with LAMP-2 mutations in Danon disease causes an abnormally low transepithelial potential across the retinal pigment epithelium, in both light and darkness, probably because of alterations in tight junction resistance of retinal pigment epithelial cells.

Periodontal disease has been associated with an increased risk of stroke. Unstable carotid plaques are more prone to rupture and produce emboli that result in stroke or transient ischaemic episodes (TIA). The aim of this pilot study was to investigate whether periodontal disease is associated with a) symptomatic carotid disease and b) the instability of carotid plaques as indicated by ultrasound. The study included 57 patients that underwent surgery for carotid artery stenosis at Hellenic Red Cross Hospital in Athens. Prior to surgery, symptomatic plaques were recorded and patients were examined with ultrasonography for plaque stability. Additionally, patients received full mouth periodontal examination including measurements of attachment loss (AL) and probing pocket depth (PPD) to define periodontitis. Statistical analysis was performed using the X2test. Seventeen patients were edentulous. More patients with mean PPD >3.5mm had symptomatic plaques compared to patients with mean PPD <2.5mm (p=0.06). There was also a trend for unstable plaques (type I and II) for the first group (p=0.1). A similar trend was also evident when patients suffered from periodontitis defined as the verification of at least 4 sites with PPD≥6mm and AL≥5mm. Finally, significantly more edentulous patients had symptomatic plaques than patients with mean PPD<2.5mm (p=0.05). The results of this pilot study indicate that patients with more severe periodontitis may be associated with symptomatic and “softer” atherosclerotic plaques. However, a larger sample size is required to verify this association.

Single-incision laparoscopic (SIL) colectomy is feasible and safe. The impact of SIL technique on cost is unknown. This study compares direct cost and resource utilization of SIL right-colectomy to multiport laparoscopic (LAP) and hand-assisted laparoscopic (HAL) techniques. The purpose of this study is to determine whether the SIL technique affects cost and resource utilization in the operating room.Twenty-nine sequential SIL right-colectomy cases were performed between August 2009 and April 2010 and were case-matched for age, gender, body mass index (BMI), ASA score, previous abdominal surgery and pathology to an equivalent number of LAP and HAL right-colectomy cases. Outcome, resource utilization and direct cost were analyzed with a 90-day follow-up.Outcomes including conversion rates, postoperative morbidity, ER visits and readmissions were similar among groups. Primary hospitalization length of stay (LOS) was shorter for the SIL group (p<0.05); however, when including readmission days, LOS was equivalent among the three groups. Primary hospitalization cost was similar for SIL ($5920) and LAP ($6716) groups, but the cost for SIL was significantly lower than that for the HAL group ($7560; p<0.01). Total OR cost was similar for SIL ($3620) and LAP ($3931) groups, and both were lower than the HAL group ($4435; p<0.01). Total operating room time was equivalent among groups (164 to 176 min; p=0.31). The SIL technique was associated with a reduction in the number of additional ports, staplers, and stapler reloads (p<0.01) used. Total 90-day cost was equivalent among the three groups.SIL right colectomy technique results in decreased direct cost for primary hospitalization and total OR cost compared to the HAL technique. Our data suggest this may be due, in part, to changes in practice patterns and resource utilization.

OBJECTIVE To describe novel electroretinographic (ERG) findings associated with congenital disorder of glycosylation due to phosphomannomutase deficiency (PMM2-CDG) (previously known as congenital disorder of glycosylation type 1a). METHODS Two male siblings with genetically confirmed PMM2-CDG underwent full-field ERG to a range of scotopic and photopic flash luminances that extended the International Society for Clinical Electrophysiology of Vision standard protocol and included scotopic 15-Hz flicker and photopic prolonged on-off stimulation. RESULTS Photopic prolonged ERGs were profoundly electronegative with absent b-waves but preserved oscillatory potentials. Prolonged off-responses and off-oscillatory potentials were preserved. Transient full-field photopic ERGs revealed a broad a-wave and narrow b-wave, and the photopic 30-Hz flicker ERG had a sawtooth waveform. The scotopic b-waves of both cases were attenuated to the fifth percentile, whereas scotopic a-wave amplitudes were at the 50th to 75th percentile, giving a reduced a:b ratio. The scotopic a-wave waveform was well defined to bright flash luminance. The number of scotopic oscillatory potentials was preserved, although amplitudes were smaller than average. Scotopic 15-Hz flicker ERGs were evident to a range of flash luminances and showed an expected phase cancellation between −1.5 and −1.0 log scotopic td (troland) • s, but phase increased only for the fast rod pathway. CONCLUSIONS We find, for the first time to our knowledge, an association of PMM2-CDG with a selective on-pathway dysfunction in the retina. This ERG phenotype localizes the site of retinal dysfunction to the on-bipolar synapse with photoreceptors. Modeling the unusual combination of ERG findings helps our understanding of the role of N -glycosylation at this synapse and provides a focus for future studies of potential intervention.

At Great Ormond Street Hospital for Children, patients with periocular hemangiomas are assessed in a multidisciplinary team setting using a protocol developed in 1999. As part of this protocol, surgery is indicated for lesions that continue to cause amblyopia despite treatment with systemic or intralesional steroids or both. Surgery is performed by one of the authors (D.D.). This experience is described.

The purpose of this study was to examine the prevalence and type of changes observed in the pattern reversal visual evoked potentials recorded at the first assessment of children with craniosynostosis.

The main objective of this study was to assess the correlation of auditory event related potential (ERP) measures with behavioral assessment data to identify if ERPs including mismatch negativity (MMN) can be used to categorize cochlear implant patients into good and poor performers.

To identify cortical areas involved in auditory detection and discrimination of frequency and duration stimuli in an awake child.

The objective of this case-report study was to assess the presence of central auditory impairment in a patient with a normal neurological examination. This subject was a 45-year-old female with gradually deteriorating hearing difficulties over a period of 5 years and a borderline normal audiogram. Behavioural central auditory tests were used, including Dichotic Sentence Identification Test, Competing Sentences Test, and auditory event-related potentials (mismatch negativity). Behavioural central auditory tests and mismatch negativity results were abnormal and indicated disordered central auditory processing. Subsequent magnetic resonance imaging of the brain identified subtle changes consistent with small-vessel ischaemic disease. Adult patients who present with hearing difficulties that cannot be explained on the basis of their audiogram should undergo central auditory assessment, as the auditory symptoms may be the first and only manifestation of central nervous system pathology.

Objectives:: To study the development and progression in time of deep venous valve incompetence with Duplex ultrasonography in combination with distal cuff deflation in patients with a history of deep venous thrombosis (DVT) and to evaluate symptoms of chronic venous insufficiency (CVI). Design:: Prospective cohort study. Materials and methods:: In a long term follow-up study the deep venous system of 24 patients (7 men, 17 women, mean age 51 years) of an initial group of 27 with phlebographically documented deep venous thrombosis were examined with Duplex scanning at two intervals (mean 34 and 86 months) after DVT. Results:: All but one segments recanalised. Deep venous incompetence occurred exclusively in post-DVT segments. At first follow-up 48% of the post-thrombotic segments showed valve incompetence, while at second follow-up this had increased to 60% (p < 0.001). Venous segments of the upper leg mainly contributed to this increase. Our group of 24 patients was too small to find any significant correlation between symptoms, thrombosis and valvular incompetence. Conclusions:: The development of deep vein valve incompetence after deep vein thrombosis is a progressive process over more than 5 years.

Concurrent presentation of ulcerative colitis and sickle cell disease is a very rare incident. We report the fifth case to be reported worldwide.A 21-year-old woman with coincidental ulcerative colitis and sickle cell disease presented complaining of an acute abdominal pain, rendering the differential diagnosis as a very challenging task. Finally, she underwent surgery involving a long-term and multistep procedure.Abdominal pain could be ascribed to ulcerative colitis or a sickle cell crisis. Surgical intervention is reserved for acute complications of both diseases. If surgery is chosen as the treatment modality in a surgical emergency, a multistep and extended procedural plan must be considered to ensure the optimal outcome of the patient.The rarity of this coincidental abdominal pain renders differential diagnosis a very challenging task for the attending physician. If surgical intervention is inevitable, both the patient and surgeon must understand the long-term and multistep plan to ensure an optimal outcome.

External hemorrhoidal skin tags are generally benign. Colorectal cancer metastases to the squamous epithelium of perianal skin tags without other evidence of disseminated disease is a very rare finding. We present the case of a 61-year-old man with metastasis to an external hemorrhoidal skin tag from a midrectal primary adenocarcinoma. This case report highlights the importance of close examination of the anus during surgical planning for colorectal cancers. Abnormal findings of the perianal skin suggesting an implant or metastatic disease warrant biopsy, as distal spread and seeding can occur. In our patient, this finding appropriately changed surgical management.