The undesirable wink

Background:Marin-Amat syndrome is a rare acquired oculofacial synkinesis first reported in 1918. It manifests as involuntary eyelid closure on jaw opening or on lateral movement of the jaw following a peripheral facial nerve palsy. The increased orbicularis tone due to aberrant connections between the cranial nerve (CN) V and CN VII results in an undesirable wink with major psychosocial impact.Purpose:Most cases in literature were either observed or administered botulinum toxin injection to the orbicularis muscle. There are few sporadic reports of surgical interventions with successful outcomes.Hence there was a need to generate awareness regarding various modes of management of this rare entity.Synopsis:We present a video on the clinical presentation and management of six such patients, of whom one was bilateral. Five patients were females. Traumatic facial nerve paralysis and Bell’s palsy was previously diagnosed in one and five patients respectively. The mean age was 52 ± 9.48 years. The mean MRD (margin reflex distance) 1 and MRD 2 was 3.17 ± 0.60 and 5.33± 0.65 mm respectively. On smiling or on movement of the jaw the MRD 1 and 2 was reduced by 2. 50±0.40 and 1.50+/-0.40 mm respectively. Of the six patients four patients opted for nil intervention.Highlights:Botulinum toxin injection and preseptal orbicularis resection in the upper and lower eyelid along with blepharoplasty was performed in 1 patient each. Satisfactory reduction in the synkinetic movement was achieved in both. Marin-Amat syndrome is a rare often underdiagnosed synkinetic disorder following peripheral facial nerve palsy. Botulinum toxin injection and preseptal orbicularis resection are viable management options.Video link: https://youtu.be/YQbRecp449w     

The endovascular management of visceral artery aneurysms and pseudoaneurysms

OBJECTIVE: Visceral artery aneurysms may be treated by aneurysm exclusion, excision, revascularization, and endovascular techniques. The purpose of this study was to review the outcomes of the management of visceral artery aneurysms with catheter-based techniques. METHODS: Between 1997 and 2005, 90 patients were identified with a diagnosis of visceral artery aneurysm. This was inclusive of aneurysmal disease of the celiac axis, superior mesenteric artery (SMA), inferior mesenteric artery, and their branches. Surveillance without intervention occurred in 23 patients, and 19 patients underwent open aneurysm repair (4 ruptures). The endovascular treatment of 48 consecutive patients (mean age 58, 60% men) with 20 visceral artery aneurysms (VAA) and 28 visceral artery pseudoaneurysms (VAPA) was the basis for this study. Electronic and hardcopy medical records were reviewed for demographic data and clinical variables. Original computed tomography (CT) scans and fluoroscopic imaging were evaluated. RESULTS: The endovascular treatment of visceral artery aneurysms was technically successful in 98% of 48 procedures, consisting of 3 celiac axis repairs, 2 left gastric arteries, 1 SMA, 12 hepatic arteries, 20 splenic arteries, 7 gastroduodenal arteries, 1 middle colic artery, and 2 pancreaticoduodenal arteries. Of these, 29 (60%) were performed for symptomatic disease (5 ruptured aneurysms). Procedures were performed in the endovascular suite under local anesthesia with conscious sedation (94%). The femoral artery was used as the preferential access site (90%). Coil embolization was used for aneurysm exclusion in 96%. N-butyl-2-cyanoacrylate (glue) was used selectively (19%) using a triaxial system with a 3F microcatheter for persistent flow or multiple branches. The 30-day mortality was 8.3% (n = 4). One patient died from recurrent gastrointestinal bleeding after gastroduodenal embolization, and the remaining died of unrelated causes. All perioperative deaths occurred in patients requiring urgent or emergent intervention in the setting of hemodynamic instability. No patients undergoing elective intervention died in the periprocedural period. Postprocedural imaging was performed after 77% of interventions at a mean of 16 months. Complete exclusion of flow within the aneurysm sac occurred in 97% interventions with follow-up imaging, but coil and glue artifact complicated CT evaluation. Postembolization syndrome developed in three patients (6%) after splenic artery embolization. There was no evidence of hepatic insufficiency or bowel ischemia after either hepatic or mesenteric artery aneurysm treatment. Three patients required secondary interventions for persistent flow (n = 1) and recurrent bleeding from previously embolized aneurysms (n = 2). CONCLUSION: Visceral artery aneurysms and pseudoaneurysms can be successfully treated with endovascular means with low periprocedural morbidity; however, the urgent repair of these lesions is still associated with elevated mortality rates. Aneurysm exclusion can be accomplished with coil embolization and the selective use of N-butyl-2-cyanoacrylate. Current catheter-based techniques extend our ability to exclude visceral artery aneurysms, but imaging artifact hampers postoperative CT surveillance.     

Brain dynamics of post‐task resting state are influenced by expertise: Insights from baseball players

Post‐task resting state dynamics can be viewed as a task‐driven state where behavioral performance is improved through endogenous, non‐explicit learning. Tasks that have intrinsic value for individuals are hypothesized to produce post‐task resting state dynamics that promote learning. We measured simultaneous fMRI/EEG and DTI in Division‐1 collegiate baseball players and compared to a group of controls, examining differences in both functional and structural connectivity. Participants performed a surrogate baseball pitch Go/No‐Go task before a resting state scan, and we compared post‐task resting state connectivity using a seed‐based analysis from the supplementary motor area (SMA), an area whose activity discriminated players and controls in our previous results using this task. Although both groups were equally trained on the task, the experts showed differential activity in their post‐task resting state consistent with motor learning. Specifically, we found (1) differences in bilateral SMA–L Insula functional connectivity between experts and controls that may reflect group differences in motor learning, (2) differences in BOLD‐alpha oscillation correlations between groups suggests variability in modulatory attention in the post‐task state, and (3) group differences between BOLD‐beta oscillations that may indicate cognitive processing of motor inhibition. Structural connectivity analysis identified group differences in portions of the functionally derived network, suggesting that functional differences may also partially arise from variability in the underlying white matter pathways. Generally, we find that brain dynamics in the post‐task resting state differ as a function of subject expertise and potentially result from differences in both functional and structural connectivity. Hum Brain Mapp 37:4454–4471, 2016. © 2016 The Authors Human Brain Mapping Published by Wiley Periodicals, Inc.     

Lower eyelid suspension using polypropylene suture for the correction of punctal ectropion

ObjectiveTo evaluate the efficacy and complications of lower eyelid suspension with the modified Safdarjung hospital technique using 5:0 polypropylene suture for punctal ectropion.Study designProspective case series.MethodThirty one eyelids in 19 patients with mild and moderate ectropion and all types of laxity including involutional and paralytic were included. All patients underwent lower eyelid suspension with the modified Safdarjung hospital technique. A 5:0 polypropylene suture was passed in the pre-tarsal plane between the attachments of the lateral and medial canthal tendons near their insertion at the orbital rim. Successful outcome was judged by the anatomical restoration of the apposition of the punctum to the globe in the upward gaze and the physiological relief of epiphora. The recurrence of lid laxity, overall lid/globe apposition and complications were also noted.ResultsAt 1 year follow up anatomical success was achieved in 28 (90%) patients and functional success noted in 27 (87%) patients. Recurrence of lid laxity was noted in 2 patients. There was a suture exposure in one case and a suture granuloma in another case. The results did not correlate to the degree of ectropion and type of laxity.ConclusionLower eyelid suspension using 5:0 polypropylene suture is a useful procedure for the treatment of involutional and paralytic punctal ectropion. It is simple and effective with minimal complications. However, the effect on scleral show and the concern related to suture material biodegradation over years needs to be further evaluated.     

Generalized Multifactor Dimensionality Reduction (GMDR) Analysis of Drug-Metabolizing Enzyme-Encoding Gene Polymorphisms may Predict Treatment Outcomes in Indian Breast Cancer Patients

Background

Prediction of response and toxicity of chemotherapy can help personalize the treatment and choose effective yet non-toxic treatment regimen for a breast cancer patient. Interplay of variations in various drug-metabolizing enzyme (DME)-encoding genes results in variable response and toxicity of chemotherapeutic drugs. Generalized multi-analytical (GMDR) approach was used to determine the influence of the combination of variants of genes encoding phase 0 (SLC22A16); phase I (CYP450, NQO1); phase II (GSTs, MTHFR, UGT2B15); and phase III (ABCB1) DMEs along with confounding factors on the response and toxicity of chemotherapeutic drugs in breast cancer patients.

Methods

In an Indian breast cancer patient cohort (n = 234), response to neo-adjuvant chemotherapy (n = 111) and grade 2–4 toxicity to chemotherapy were recorded. Patients were genotyped for 19 polymorphisms selected in four phases of DMEs by PCR or PCR–RFLP or Taqman allelic discrimination assay. Binary logistic regression and GMDR analysis was performed. Bonferroni test for multiple comparisons was applied, and p value was considered to be significant at <0.025.

Results

For ABCB1 1236C>T polymorphism, CT genotype was found to be significantly associated with response to NACT in uni-variate and multi-variate analysis (p = 0.018; p = 0.013). The TT genotype of NQO1 609C>T had a significant association with (absence of) grade 2–4 toxicity in uni-variate analysis (p = 0.021), but a non-significant correlation in multi-variate analysis. In GMDR analysis, interaction of CYP3A5*3, NQO1 609C>T, and ABCB1 1236C>T polymorphisms yielded the highest testing accuracy for response to NACT (CVT = 0.62). However, for grade 2–4 toxicity, CYP2C19*2 and ABCB1 3435C>T polymorphisms yielded the best interaction model (CVT = 0.57).

Conclusion

This pharmacogenetic study suggests a role of higher order gene–gene interaction of DME-encoding genes, along with confounding factors, in determination of treatment outcomes and toxicity in breast cancer patients. This can be used as a potential objective tool for individualizing breast cancer chemotherapy with high efficacy and low toxicity.

     

Fulminant vigabatrin toxicity during combination therapy with adrenocorticotropic hormone for infantile spasms: Three cases and review of the literature

Vigabatrin (VGB), adrenocorticotropic hormone (ACTH), and prednisone are first-line treatments for infantile spasms (IS). A recent study reported benefits from the use of combination VGB and hormonal therapy over hormonal treatment alone in IS. We describe three patients with IS who developed acute encephalopathy with extrapyramidal symptoms, vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), and death in one patient shortly after initiation of therapy with VGB and ACTH. A literature review supports increased risk of fulminant, symptomatic VABAM in patients receiving VGB in association with hormonal therapy, raising concerns regarding its safety in IS.     

Prevalence of refractive errors among the school-going children in East Sikkim

Purpose:Vision plays an important role in child''s development for learning and communication. Uncorrected refractive error (URE) has become a major challenge to health care policy makers especially in school going children. We aim to report the prevalence of refractive error among the school students of the east district of Sikkim, India.Methods:A cross-sectional study was carried out among 15,954 school children under school health program of national program for control of blindness. The screening was conducted in 40 schools of east district which included primary, higher secondary, monastic and private schools.Results:The prevalence of refractive error was 6.7% among which myopia was the most common error present in 335 (31.1%) children, followed by astigmatism in 317 (29.4%) and the remaining 29 (2.6%) with hyperopia. The age group between 14-17 years had high prevalence of refractive error (9.2%). Females had slightly higher refractive error (6.93%) than males (5.9 %). Most backward classes were found to be highest suffering from refractive error (26.65%) and the least seen was found in schedule tribe (11.6%).Conclusion:The study provides a useful and baseline data about the refractive error amongst the school children of east Sikkim. A larger study needs to be conducted in all the schools of the state to get a clearer picture of RE and other eye related diseases to detect vision problem as early as possible.