Renata Conforti

Researcher of Neuroradiology

Name Renata
Surname Conforti
Institution Università degli Studi della Campania Luigi Vanvitelli
Telephone +39 081 2545575
E-Mail renata.conforti@unicampania.it
Address Neuroradiology Unit, Department of Clinical and Experimental Medicine and Surgery, Università della Campania Studi Vanvitelli, Naples, Italy
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Renata Conforti

Member PUBLICATIONS

  • A Novel 12q13.2-q13.3 Microdeletion Syndrome With Combined Features of Diamond Blackfan Anemia, Pierre Robin Sequence and Klippel Feil Deformity.

    Publication Date: 19/11/2018 on Frontiers in genetics
    by Roberti D, Conforti R, Giugliano T, Brogna B, Tartaglione I, Casale M, Piluso G, Perrotta S
    DOI: 10.3389/fgene.2018.00549

    Diamond-Blackfan anemia (DBA) is a rare congenital erythroid aplasia with a highly heterogeneous genetic background; it usually occurs in infancy. Approximately 30-40% of patients have other associated congenital anomalies; in particular, facial anomalies, such as cleft palate, are part of about 10% of the DBA clinical presentations. Pierre Robin sequence (PRS) is a heterogeneous condition, defined by the presence of the triad of glossoptosis, micrognathia and cleft palate; it occurs in 1/8500 to 1/14,000 births. Klippel Feil (KF) syndrome is a complex of both osseous and visceral anomalies, characterized mainly by congenital development defects of the cervical spine. We describe the case of a 22-years-old woman affected by DBA, carrying a deletion about 500 Kb-long at 12q13.2-q13.3 that included and, at least, others 25 flanking genes. The patient showed craniofacial anomalies due to PRS and suffered for KF deformities (type II). Computed Tomography study of cranio-cervical junction (CCJ) drew out severe bone malformations and congenital anomalies as atlanto-occipital assimilation (AOA), arcuate foramen and occipito-condylar hyperplasia. Foramen magnum was severely reduced. Atlanto-axial instability (AAI) was linked to atlanto-occipital assimilation, congenital vertebral fusion and occipito-condyle bone hyperplasia. Basilar invagination and platybasia were ruled out on CT and Magnetic Resonance Imaging (MRI) studies. Furthermore, the temporal Bone CT study showed anomalies of external auditory canals, absent mastoid pneumatization, chronic middle ear otitis and abnormal course of the facial nerve bones canal. The described phenotype might be related to the peculiar deletion affecting the patient, highlighting that genes involved in the in the breakdown of extracellular matrix (), in cell cycle regulation (, vesicular trafficking (, in ribonucleoprotein complexes formation () and muscles function ( and ) could be potentially related to bone-developmental disorders. Moreover, it points out that multiple associated ribosomal deficits might play a role in DBA-related phenotypes, considering the simultaneous deletion of three of them in the index case ( and , and it confirms the association among functional disruption and severe myopia. This report highlights the need for a careful genetic evaluation and a detailed phenotype-genotype correlation in each complex malformative syndrome.

  • The Role of Wearable Devices in Multiple Sclerosis.

    Publication Date: 10/10/2018 on Multiple sclerosis international
    by Sparaco M, Lavorgna L, Conforti R, Tedeschi G, Bonavita S
    DOI: 10.1155/2018/7627643

    Multiple sclerosis (MS) is the most common neurological disorder in young adults. The prevalence of walking impairment in people with MS (pwMS) is estimated between 41% and 75%. To evaluate the walking capacity in pwMS, the patient reported outcomes (PROs) and performance-based tests (i.e., the 2-minute walk test, the 6-minute walk test, the Timed 25-Foot Walk Test, the Timed Up and Go Test, and the Six Spot Step Test) could be used. However, some studies point out that the results of both performance-based tests and objective measures (i.e., by accelerometer) could not reflect patient reports of walking performance and impact of MS on daily life. This review analyses different motion sensors embedded in smartphones and motion wearable device (MWD) that can be useful to measure free-living walking behavior, to evaluate falls, fatigue, sedentary lifestyle, exercise, and quality of sleep in everyday life of pwMS. Caveats and limitations of MWD such as variable accuracy, user adherence, power consumption and recharging, noise susceptibility, and data management are discussed as well.

  • Dilated Virchow-Robin space and Parkinson's disease: A case report of combined MRI and diffusion tensor imaging.

    Publication Date: 30/06/2018 on Radiology case reports
    by Conforti R, Sardaro A, Negro A, Caiazzo G, Paccone A, De Micco R, Cirillo S, Tessitore A
    DOI: 10.1016/j.radcr.2018.05.011

    In this manuscript we report the case of a 69-year-old female patient, who suffers from Parkinson's disease (PD) with a dilated Virchow-Robin space (dVRS) on the left anterior perforated substance. During a magnetic resonance imaging examination, the presence of a dVRS was discovered on the left anterior perforated substance. Subsequently, the patient has been subjected to further investigation of magnetic resonance imaging and diffusion tensor imaging (DTI). The DTI data of our PD patient showed increased peak frequency of left fractional anisotropy and decreases in the distribution of Mean Diffusivity(MD) with changes in the fiber density compared to the normal contralateral tract. We hypothesize that the DTI changes are due to dVRS. In the text a review of the recent literature on the presence of dVRSs, located in mono and bilateral seat, in patients with PD is reported, explaining its possible implications on disease progression, cognitive decline, and worsening of symptoms.

  • Sporadic cerebral amyloid angiopathy as a cause of relapsing lobar hemorrhage, convexal subarachnoid hemorrhage and cortical superficial siderosis.

    Publication Date: 01/11/2016 on Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
    by Conforti R, Sardaro A, Cirillo S, Parlato C
    DOI: 10.1007/s10072-016-2624-8
  • A challenging diagnosis of late-onset tumefactive multiple sclerosis associated to cervicodorsal syringomyelia: doubtful CT, MRI, and bioptic findings: Case report and literature review.

    Publication Date: 01/09/2016 on Medicine
    by Conforti R, Capasso R, Galasso R, Cirillo M, Taglialatela G, Galasso L
    DOI: 10.1097/MD.0000000000004585

    Tumefactive multiple sclerosis (MS) is an unusual variant of demyelinating disease characterized by lesions with pseudotumoral appearance on radiological imaging mimicking other space-occupying lesions, such as neoplasms, infections, and infarction. Especially when the patient's medical history is incompatible with MS, the differential diagnosis between these lesions constitutes a diagnostic challenge often requiring histological investigation. An older age at onset makes distinguishing tumefactive demyelinating lesion (TDL) from tumors even more challenging.

  • Dilated perivascular spaces and fatigue: is there a link? Magnetic resonance retrospective 3Tesla study.

    Publication Date: 01/09/2016 on Neuroradiology
    by Conforti R, Cirillo M, Sardaro A, Caiazzo G, Negro A, Paccone A, Sacco R, Sparaco M, Gallo A, Lavorgna L, Tedeschi G, Cirillo S
    DOI: 10.1007/s00234-016-1711-0

    Fatigue (F) is a common, inexplicable, and disabling symptom in multiple sclerosis (MS) patients. The purpose of this study was to evaluate a possible correlation between fatigue and morpho-volumetric features and site of dilated perivascular spaces (dPS), visible on 3T magnetic resonance (MR) in fatigued multiple sclerosis patients (FMS).

  • Isolated unilateral ptosis due to neurovascular conflict.

    Publication Date: 01/04/2016 on Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
    by Piccirillo G, Trojsi F, Conforti R, Tedeschi G
    DOI: 10.1007/s10072-015-2440-6
  • Brain MRI abnormalities in the adult form of myotonic dystrophy type 1: A longitudinal case series study.

    Publication Date: 01/02/2016 on The neuroradiology journal
    by Conforti R, de Cristofaro M, Cristofano A, Brogna B, Sardaro A, Tedeschi G, Cirillo S, Di Costanzo A
    DOI: 10.1177/1971400915621325

    This study aimed to verify whether brain abnormalities, previously described in patients with myotonic dystrophy type 1 (DM1) by magnetic resonance imaging (MRI), progressed over time and, if so, to characterize their progression. Thirteen DM1 patients, who had at least two MRI examinations, were retrospectively evaluated and included in the study. The mean duration (± standard deviation) of follow-up was 13.4 (±3.8) years, over a range of 7-20 years. White matter lesions (WMLs) were rated by semi-quantitative method, the signal intensity of white matter poster-superior to trigones (WMPST) by reference to standard images and brain atrophy by ventricular/brain ratio (VBR). At the end of MRI follow-up, the scores relative to lobar, temporal and periventricular WMLs, to WMPST signal intensity and to VBR were significantly increased compared to baseline, and MRI changes were more evident in some families than in others. No correlation was found between the MRI changes and age, onset, disease duration, muscular involvement, CTG repetition and follow-up duration. These results demonstrated that white matter involvement and brain atrophy were progressive in DM1 and suggested that progression rate varied from patient to patient, regardless of age, disease duration and genetic defect.

  • Increased interictal visual network connectivity in patients with migraine with aura.

    Publication Date: 01/02/2016 on Cephalalgia : an international journal of headache
    by Tedeschi G, Russo A, Conte F, Corbo D, Caiazzo G, Giordano A, Conforti R, Esposito F, Tessitore A
    DOI: 10.1177/0333102415584360

    To evaluate the resting-state visual network functional connectivity in patients with migraine with aura and migraine without aura during the interictal period.

  • Mastication induces long-term increases in blood perfusion of the trigeminal principal nucleus.

    Publication Date: 17/12/2015 on Neuroscience
    by Viggiano A, Manara R, Conforti R, Paccone A, Secondulfo C, Lorusso L, Sbordone L, Di Salle F, Monda M, Tedeschi G, Esposito F
    DOI: 10.1016/j.neuroscience.2015.10.017

    Understanding mechanisms for vessel tone regulation within the trigeminal nuclei is of great interest because some headache syndromes are due to dysregulation of such mechanisms. Previous experiments on animal models suggest that mastication may alter neuron metabolism and blood supply in these nuclei. To investigate this hypothesis in humans, arterial spin-labeling magnetic resonance imaging (MRI) was used to measure blood perfusion within the principal trigeminal nucleus (Vp) and in the dorsolateral-midbrain (DM, including the mesencephalic trigeminal nucleus) in healthy volunteers, before and immediately after a mastication exercise consisting of chewing a gum on one side of the mouth for 1 h at 1 bite/s. The side preference for masticating was evaluated with a chewing test and the volume of the masseter muscle was measured on T1-weighted MRI scans. The results demonstrated that the mastication exercise caused a perfusion increase within the Vp, but not in the DM. This change was correlated to the preference score for the side where the exercise took place. Moreover, the basal Vp perfusion was correlated to the masseter volume. These results indicate that the local vascular tone of the trigeminal nuclei can be constitutively altered by the chewing practice and by strong or sustained chewing.