Papers by Stefania Marzoli
Frontiers in Psychology, Apr 10, 2018
Non-organic vision loss (NOVL), a functional partial or global vision loss, might be considered a... more Non-organic vision loss (NOVL), a functional partial or global vision loss, might be considered a manifestation of conversion disorder. The few previous studies focused on investigating the relationship between cerebral activity and subjective symptoms in NOVL; however, the emotional processing is still neglected. In the present casecontrols study, we investigated the capability of two individuals diagnosed with NOVL to recognize implicitly the emotions of fear and anger; this was assessed through a facial emotion recognition task based on the redundant target effect. In addition, the level of alexithymia was measured by asking them to judge explicitly their ability to identify and describe emotions. Both individuals showed selective difficulties in recognizing the emotion of fear when their performance was contrasted with a matched control sample; they also mislabeled other emotional stimuli, judging them as fearful, when they were not. However, they did not report alexithymia when measured using a standard questionnaire. This preliminary investigation reports a mismatch between the implicit (i.e., the behavior in the experimental paradigm) and the explicit (i.e., the subjective evaluation of one's own emotional capability) components of the emotional processing in NOVL. Moreover, fear seems to represent a critical emotion in this condition, as has been reported in other psychiatric disorders. However, possible difficulties in the emotional processing of fear would emerge only when they are inferred from an implicit behavior, instead of a subjective evaluation of one's own emotional processing capability.
Neurological Sciences, May 1, 2013
Headache is a key symptom of idiopathic intracranial hypertension (IIH). Operational diagnostic c... more Headache is a key symptom of idiopathic intracranial hypertension (IIH). Operational diagnostic criteria for ''Headache attributed to IIH'' are included in the international classification of headache disorders, the ICHD-2. The association of IIH with obesity was established by several reports. We investigate the prevalence of headache and its main clinical features in a clinical sample of IIH patients. The possible correlations between the presence of headache and body mass index (BMI) and intracranial pressure (ICP) levels were studied in a consecutive clinical series of patients, in whom diagnosis of IIH was confirmed by exclusion of secondary forms and by the evidence of increased ICP. Differences for age, BMI, and ICP between patients with and without headache and between males and females were assessed with Mann-Whitney U test. Spearman's correlation analysis was used to assess relationships between age, BMI, and ICP. P value \ 0.05 was used to set statistical significance. 40 patients entered the study (9 males, 31 females; mean age 39, 8 years, SD 13.2). Headache was reported by 75 % patients. Those characteristics which are included in the present international diagnostic criteria for ''Headache attributed to IIH'' were reported by a remarkable proportion of the studied patients, but not by all. On the other hand, some headache features usually attributed to migraine forms, and which are not among the required criteria were present in some patients: pulsating quality and unilateral distribution of pain in around 20 %, and migrainous associated symptoms in more than 40 % of the sample. According to statistical analyses, no differences were found for age, BMI, and ICP between patients with and without headache. Our results confirmed the strong association between headache and IIH. Although no significant correlations between some of the key features of IIH were found in this study, we suggest that further studies on larger series-possibly with a longitudinal evaluation-are needed, to help clinicians in categorizing different subgroups among IIH patients as well as in identifying the main factors influencing the prognosis of this disorder.
European Journal of Ophthalmology, Nov 11, 2021
Parapapillary atrophy is one of the parameters of the optic nerve head area which are assessed du... more Parapapillary atrophy is one of the parameters of the optic nerve head area which are assessed during the ophthalmoscopic examination particularly useful to characterize glaucomatous optic neuropathy. Optical coherence tomography evaluation provides high-resolution images of the optic nerve head and surrounding area, and can be used to study parapapillary atrophy. Different parapapillary atrophy zones were described depending on their histological features and research has been conducted to investigate the possible association between the presence and/ or size of parapapillary atrophy zones and several optic nerve disorders. In this review we discuss the histology and the clinical findings related to parapapillary atrophy in patients with glaucomatous optic neuropathy, non-glaucomatous optic neuropathies (e.g. arteritic and non-arteritic anterior ischemic optic neuropathies; suprasellar and parasellar tumors), and other ocular conditions (e.g. high myopia; age-related macular degeneration). Two different histologic classifications were identified. Parapapillary atrophy was demonstrated in glaucoma and glaucoma-like neuropathies, but not in other types of optic nerve disorders.
Neurological Sciences, May 1, 2015
Ocular pain due to ophthalmological diseases is most commonly associated with redness and inflamm... more Ocular pain due to ophthalmological diseases is most commonly associated with redness and inflammation of the ocular surface and surrounding tissues. Pain in a quiet eye can be referred as headache and can be the first sign of a number of ocular or orbital conditions. Painful symptoms may be considered non-specific if signs of targeted diseases are not identified. Collection of appropriate history of pain around the eye and associated symptoms or signs should be considered to recognize when ophthalmological examination is needed. Some painful diseases such as intermittent angle closure glaucoma, uveitis or optic neuritis, can lead to severe and permanent visual loss and require a prompt diagnosis and treatment.
The Lancet Neurology
Treatment with risdiplam over 24 months resulted in continual improvements in motor function and ... more Treatment with risdiplam over 24 months resulted in continual improvements in motor function and achievement of developmental motor milestones. The FIREFISH open-label extension phase will provide additional evidence regarding long-term safety and efficacy of risdiplam.
Experimental Eye Research
Investigative Ophthalmology & Visual Science, Apr 22, 2011
Investigative Ophthalmology & Visual Science, Mar 26, 2012
Physiology & Behavior, 2021
The visual fixation represents a doubtful behavioral sign to discriminate Vegetative from Minimal... more The visual fixation represents a doubtful behavioral sign to discriminate Vegetative from Minimally Conscious State (MCS). To disentangle its meaning, we fitted univariate and multivariable logistic regression models matching different neurophysiological and neuroimaging data of 54 patients with Disorders of Consciousness to select the best model predicting which visual performance (visual blink or pursuit) was shown by patients and the best predictors set. The best models found highlighted the importance of the structural MRI and the visual evoked potentials data in predicting visual pursuit. Then, a qualitative pilot test was made on four patients showing visual fixation revealing that the obtained models correctly predict whether the patients' visual performance could support/correlate to a cognitively mediated behavior. The present pilot models could help clinicians to evaluate if the visual fixation response can support the MCS diagnosis.
Diabetes, 2018
Diabetic neuropathy (DN) is a major complication of diabetes, causing more than 50% of all hospit... more Diabetic neuropathy (DN) is a major complication of diabetes, causing more than 50% of all hospital accesses related to type 1 diabetes (T1D). However, diagnostic criteria are not yet standardized, and diagnosis also of symptomatic DN is often underestimated. Given the medical need for an accurate non-invasive diagnostic tool, we developed a test based on tracking eye movement for early detection of DN called Eykon. SRLab -Tobii TX300 Eye tracker®, an eye-tracking device, is coupled with a series of screens on a computer to test the velocity and accuracy of gaze movement in healthy controls (CTRL, n=30), T1D patients without neuropathy (T1D, n=19) and T1D patients with neuropathy (T1D-N, n=14). The screens are divided in 5 classes: Resistance, Wideness, Pursuit, Velocity and OKN. They aim to evaluate both smooth and saccadic movement in different directions. We evaluated a total of 483 parameters and observed that 27 (5.6%) were altered in T1D patients without signs of advanced DN a...
Neurological Sciences, 2019
Unilateral recurrent periorbital pain is an aspecific symptom that may have originated from diffe... more Unilateral recurrent periorbital pain is an aspecific symptom that may have originated from different orbital and ocular regions and structures that share the same innervation and can be provoked by different pathological disease. Since in some cases the patient is unable to associate with certainty the pain to a specific structure or region, a neuro-ophthalmological evaluation may be addressed to highlight signs useful to suspect the involvement of the eye, the optic nerve, the extra-ocular muscles, or intraorbital tissue or the cavernous sinus. This review describes the clinical patterns of periocular pain related to common ocular disease, orbital, or intracranial diseases.
Acta Ophthalmologica, 2017
Purpose To assess the predictive value of Spectral Domain OCT (SD-OCT) to discriminate between pa... more Purpose To assess the predictive value of Spectral Domain OCT (SD-OCT) to discriminate between pathological true optic disc edema (ODE) and mimickers responsible for pseudoedema (PODE). Methods We carried out an observational cross-sectional study of subjects consecutively referred from 2011 to 2017 to the Neuro-Ophthalmology service of 4 different hospitals for presumed acute ODE. Among a total of 155 eyes, 95 were identified as ODE and 60 as PODE. Patients underwent the optic nerve OCT evaluation using Zeiss Cirrus Optic Disc Cube 200x200 analysis. Average and four principal quadrants RNFL values were compared between ODE and PODE groups and then with age-matched controls. ROC curve and AUC were calculated to determine optimal cut-off values. Mann-Whitney and chi-square tests were used to compare groups. Statistical correlation was tested by Spearman's rho test. All tests were two sided with p<.05 being considered statistically significant. Statistical analysis was performed with IBM SPSS Statistics 24. Results Average and RNFL thickness of each optic nerve quadrants resulted significantly higher in ODE compared to control and PODE; among quadrants, the highest correlation was reported for the inferior one. Combining the appropriate cut-off value for average and inferior quadrant, we found a negative predictive value of 91% for ODE when compared to PODE. No statistically significant differences were seen between control and PODE. Conclusions Our data show the usefulness of SD-OCT in the management of acute optic disc elevation of uncertain causes. In particular, the results herein reported provide high negative predictive value in differentiating benign mimickers from true edema of the optic disc, thus avoiding misdiagnosis and invasive procedures not necessary for such patients.
Journal of the Neurological Sciences, 2017
Mutations in OPA1 are responsible of 32-89% cases of Autosomal Dominant Optic Atrophy (ADOA). OPA... more Mutations in OPA1 are responsible of 32-89% cases of Autosomal Dominant Optic Atrophy (ADOA). OPA1 ADOA usually presents in childhood with bilateral, progressive visual loss due to retinal ganglion cells neurodegeneration, but environmental factors are supposed to influence onset and phenotype. Sixty Italian OPA1 mutations carriers (fifty-two symptomatic), belonging to thirteen families, underwent neuro-ophthalmologic evaluation. Visual acuity (n = 60) and Optical Coherence Tomography (OCT) (n = 12) were compared in missense mutations (OPA-M) versus haploinsufficiency-inducing mutations (OPA-H) and correlated with age. Presence of plus phenotypes was investigated. We found four known mutations, the most common being missense c.1034G > A, and a new missense mutation, c1193A > C, the latter in a 54-yrs old female with late-onset phenotype. Visual acuity, colour sensitivity, and optic disc atrophy were sensitive indicators of disease. OCT RNFL thickness was reduced in OPA1 compared to controls. OPA-M showed worst visual acuity than OPA-H, but not more frequent plus-phenotype, observed only in four OPA-H patients. In both groups, visual acuity worsened with age. Our data confirm worst vision in OPA-M, but not increased plus-phenotype. Since most patients belonged to nine families from south-eastern Sicily (a famous region for the cult of St. Lucy, patron of the blinds) local genetic and environmental factors might have accounted for the low occurrence of plus-phenotypes.
The Journal of clinical endocrinology and metabolism, Jul 31, 2017
In animal models, disruption of thyroid hormone receptor-beta (TRβ) reduces the medium-wavelength... more In animal models, disruption of thyroid hormone receptor-beta (TRβ) reduces the medium-wavelength (L/M) and increases the short-wavelength (S)-cones. The retinal photoreceptors (RPs) functions are unknown in patients with resistance to thyroid hormone syndrome with dominant-negative TRβ mutations (RTHβ). to investigate RPs function in RTHβ. case-control study involving 27 RTHβ patients and 31 age-gender-matched controls, conducted in two tertiary referral centers in Italy. colour vision sensitivity assessed by Farnsworth with calculation of Total Score Error (TES); central macular thickness (CMT) of the outer retinal layer measured by Spectral Domain-Optical Coherence Tomography (SD-OCT); retinal function tested by full-field electroretinogram (ERG) and S-cone ERG. mean TES was worse in RTHβ than controls (p 0.002). CMT was overlapping between the study groups, but directly correlated with SHBG levels in RTHβ. We found a statistically significant reduction in amplitude of the cone (...
Clinical Neurophysiology, 2014
s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S113 P242 D... more s of Poster Presentations / Clinical Neurophysiology 125, Supplement 1 (2014) S1–S339 S113 P242 Discriminate visual neglect from hemianopia by semantic priming effect: a clinical study S. Pagani1, M. Balconi1,2, M. Sozzi3, S. Bianchi Marzoli4, L. Melzi4, M. Corbo3 1Catholic University of Milan, Department of Psychology, Milan, Italy; 2Catholic University of Milan, Research Unit in Neuropsychology of Language, Milan, Italy; 3Casa Cura Policlinico, Department of Neurorehabilitation Sciences, Milan, Italy; 4Istituto Auxologico Italiano, Neuro-ophtamology Service, Milan, Italy There is a wide agreement concerning spared abilities in implicit information processing for patients with neglect. We then hypothesized that a priming word in the neglected space should produce a semantic activation effect even when it is not consciously perceived. On the contrary, if the priming word occurs in a blind field, as it would be in case of homonymous hemianopia, this should not entail any facilitation effect. We here discuss the results of a 72 y.o. patient with a bilateral hemispheric lesion (right fronto-temporal and left occipital ischemic area) affected by left visual neglect and right homonymous hemianopia in order to study the differences in implicit information processing among neglected space and hemianopic field. After a clinical assessment the patient underwent to an experimental observation by means of a visual priming task. A prime related, unrelated or neutral to the target, occured for 200ms on the horizontal central line in six different positions of the screen (three on the left and three on the right). This task was previuosly tested on 69 control subjects and it determined in each prime position a semantic activation effect, in accordance with literature. As expected, the patient showed a priming effect in the neglected space whilst no facilitations was observed in hemianopic field. Furthermore, we studied patient’s eye movements to support behavioural data. He presented some saccades and fixations only in the neglected side; this evidences are in line with some theoretical accounts concerning a spared automatic attention orientation even towards neglected space. In conclusion these results, even observed on a single case study, seem to support our work hypothesis. Further steps of the research are now ongoing, specifically involving the application of experimental paradigm to group of patients with neglect or with hemianopia. References: Kanne, S.M. (2002) the role of semantic, orthographic, and phonological prime information in unilateral visual neglect. Cognitive neuropsychology, 19(3), 245-261 Martin, T., Riley, M.E., Kelly, K.N., Hayhoe, M., & Huxlin, K.R. (2007). Visually-guided behavior of homonymous hemianopes in a naturalistic task. Vision Research, 47, 3434-3446 Schwainberger, S.R., & Stief, V. (2001). Implicit perception in patients with visual neglect: Lexical specificity in repetition priming. Neuropsychologia, 39, 420-429 P243 Rehabilitation of drop-foot with maximal isokinetic cross-training: a case report A. Manca1, E. Ortu1,2, F. Ginatempo1,2, E.R. De Natale1, F. Pisanu1, F. Deriu1 1University of Sassari, Department of Biomedical Sciences, Sassari, Italy; 2National Health Institute-S.S.N. ASL 1 Sassari, Neurology, Ozieri, Italy Question: We wondered whether an unconventional intervention, the Cross-Training, could improve the performance of dorsiflexor muscles in an inveterate iatrogenic drop-foot. We investigated whether unilateral, maximal isokinetic training of the normal leg would induce, in the contralateral affected side, a worthy strength-transfer, with cortico-spinal and gait adaptations. Methods: A 59-year-old man who suffered in childhood a surgical-induced damage of the left common peroneal nerve at the head of the fibula, performed a 4-week training (16 sessions) of the normal leg, at 40°/s-angular velocity. Before and after training, the subject underwent a test-retest assessment procedure including: 1) bilateral isokinetic dynamometry of the dorsiflexors’ performance; 2) stance and gait-analysis; 3) recording of cortical and spinal drives to the affected leg, through measurement of central motor conduction time, input-output curve, cortical silent period (cSP), SICI, ICF, SICF, H-reflex, V-wave and M-wave. Results: The untrained-affected dorsiflexors showed considerable increases in strength (peak-torque: pre = 23N/m; post = 31N/m), power (pre = 14W; post = 22W) and total-work (pre = 9J; post = 22J). Ankle dorsiflexion increased from 4 to 11 degrees. Overall gait pattern was unchanged, however a better stance performance was suggested by changes in heel-to-forefoot contact-time % of stance-time (pre = 0.5%; post = 3.4%) and mean steplength (pre = 30cm; post = 34cm). An increase in cortico-spinal drive to the untrained-affected leg was revealed only by reduction of cSP duration (120%RMT: pre = 154ms; post = 144ms; 150% RMT: pre = 196ms; post = 182ms). Conclusions: Maximal…
Neurological Sciences, 2015
Ocular pain due to ophthalmological diseases is most commonly associated with redness and inflamm... more Ocular pain due to ophthalmological diseases is most commonly associated with redness and inflammation of the ocular surface and surrounding tissues. Pain in a quiet eye can be referred as headache and can be the first sign of a number of ocular or orbital conditions. Painful symptoms may be considered non-specific if signs of targeted diseases are not identified. Collection of appropriate history of pain around the eye and associated symptoms or signs should be considered to recognize when ophthalmological examination is needed. Some painful diseases such as intermittent angle closure glaucoma, uveitis or optic neuritis, can lead to severe and permanent visual loss and require a prompt diagnosis and treatment.
PURPOSE Several case reports showed dilatation and flow�s modifications of Superior Ophthalmic Ve... more PURPOSE Several case reports showed dilatation and flow�s modifications of Superior Ophthalmic Vein (SOV) with OCD in cases of CCSF. Digital angiography represents the gold standard technique to diagnose and to clearly define site and venous drainage of CCSF, a rare disease. Our aim was to evaluate OCD in the diagnosis of CCSF, in a relative large number of patients. METHOD AND MATERIALS Both eyes of 20 patients, in supine position with closed eyelids, with clinical suspect (pulsating exophthalmos, redness, increased intraocular pressure) of CCSF were examined with OCD (ATL-Philips HDI 5000 / 5-12 Mhz linear probe). Blood flow of Superior ophthalmic veins (SOV), inferior ophthalmic veins (IOV), central retinal veins, central retinal arteries, ophthalmic arteries was examined with OCD. The caliber of each vessel, the direction of blood flow and the following flow parameters were considered: maximum and minimum velocities for veins; peak systolic, end diastolic velocities and resistan...
The difficulty in exploring the surrounding space after a brain damage could be caused by an atte... more The difficulty in exploring the surrounding space after a brain damage could be caused by an attentional deficit (neglect) or by a reduction of visual field width (hemianopia). Even though there are different anatomical substrates between neglect and hemianopia, the performances of the patients may provide confounding results at the specific examinations. In particular it is not yet clear if the observation at the neuropsychological tests is a unique expression of neglect nor if the result at the visual-field exam is exclusively dependent by hemianopia. In the last twenty years only few studies tried to disentangle neglect from hemianopia. Besides these contributions, scientific literature provides lot of results concerning an implicit information processing for patients with neglect which is not present in patients with hemianopia. We then hypothesize that a prime-word in the neglected field should determine a semantic activation effect; whilst, if the prime-word occurs in a blind hemifield, the stimulus should not determine any activation effect. Considering this hypothesis, we studied the performance of a patient with a bilateral brain lesion causing left visual neglect and right homonymous hemianopia. The experimental procedure consisted in a fixation point in the centre of the screen for 150 ms; after that, a prime word occurred in six possible positions on the central horizontal line of the screen corresponding to three positions on the left and three on the right. At that point, a target word appeared in the centre of the screen. The patient was required to press the space-bar only when the target word belonged to a living category. Noteworthy, the primed word could be defined as related, unrelated or neutral (namely, an \u201cx\u201d string) with the target word. During the experimental session, eye movements were recorded by means of an infrared-based video tracking that provided further details in describing how patients explored the space. A significant semantic activation was observed when prime-words occurred in neglect hemifield (left) but no activation was found when they appeared in blind hemifield (right). Eye movement analysis showed the presence of saccades towards neglect hemifield when prime occurred in extreme-left positions and fixations when prime occurred in central-left position. We did not observe any saccade nor fixation when prime occurred in hemianopic field. Our results are in line with the hypothesis concerning semantic activation in the space affected by neglect but not in hemianoptic field. In addition, eye-movement analysis supports evidences concerning a spared automatic orientation of attention towards neglect space. In conclusion, even thought our data concern a single case study and further observations are needed, our findings seem to confirm the importance of a comparison between behavioural and visual exploration data to differentiate between neglect and hemianopia
Uploads
Papers by Stefania Marzoli