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Featured researches published by Loretta Giuliano.


Parkinsonism & Related Disorders | 2015

Electroencephalographic lateralization, clinical correlates and pharmacological response in untreated Parkinson's disease

Giovanni Mostile; Alessandra Nicoletti; Valeria Dibilio; Antonina Luca; Irene Pappalardo; Loretta Giuliano; Calogero Edoardo Cicero; Giorgia Sciacca; Loredana Raciti; Donatella Contrafatto; Elisa Bruno; Vito Sofia; Mario Zappia

BACKGROUND In Parkinsons disease (PD), different topographically defined cortical-subcortical oscillatory networks have been implicated in motor program dysfunction. Few studies have focused on clinical correlates of cortical activity asymmetry using quantitative electroencephalography. METHODS We retrospectively selected N = 34 L-dopa naïve PD subjects who had undergone standardized electroencephalography. We selected N = 18 subjects group-matched by age, sex and hand dominance with normal electroencephalography and no parkinsonism and/or cognitive decline as controls. A Welchs periodogram was applied to electroencephalographic signal epochs recorded from homologous pairs of electrodes over each hemisphere. An index of lateralization was then obtained as the absolute value of the electroencephalographic asymmetry index, computed by subtracting left from right-sided log power spectral density for each homologous site and frequency band. A standardized L-dopa acute challenge test was performed on all PD subjects to compute short-duration response magnitude. RESULTS In mid/lateral frontal regions higher index of lateralization for the beta band (p = 0.015) and lower index of lateralization for the theta band (p = 0.036) were found in PD subjects as compared to controls. Both parameters correlated with Hoehn-Yahr staging (beta: r = 0.428, p = 0.012; theta: r = -0.464, p = 0.006). In occipital region lower index of lateralization for the alpha band was found in PD correlating with L-dopa short-duration response magnitude (r = 0.456; p = 0.007). CONCLUSIONS Lateralization of frontal cortex beta electroencephalographic activity is associated with clinical disability. Occipital cortex alpha activity may relate to L-dopa responsiveness in untreated PD subjects.


Epilepsy & Behavior | 2018

Knowledge, attitudes, and practices towards epilepsy among general practitioners in rural Bolivia: Results before and after a training program on epilepsy

Loretta Giuliano; Calogero Edoardo Cicero; Sandra Padilla; Mario Camargo; Vito Sofia; Mario Zappia; Alessandro Bartoloni; Elizabeth Blanca Crespo Gómez; Alessandra Nicoletti

INTRODUCTION Epilepsy represents a major health problem in low- and middle-income countries where treatment gap (TG) levels are high. The reduction of epilepsy TG in the rural area of the Chaco region, Plurinational State of Bolivia, has been the aim of many projects based on the reinforcement of the primary care setting. To plan educational campaigns directed to the healthcare professionals, it is necessary to establish their baseline knowledge level. The objective of our study was to assess the baseline level of knowledge, attitudes, and practices (KAP) towards epilepsy among general practitioners (GPs) of the rural communities of the Chaco region. METHODS The study was conducted in three departments of Bolivia. All the GPs living in these areas were invited to participate in the study consisting of two training modules six months apart from each other, each with two-day duration. They answered a validated questionnaire to evaluate the KAP towards epilepsy before and after the courses. RESULTS Fifty GPs [30 men (60%); mean age: 32.1±5.8years] participated in the first training course. After six months, 31 GPs (62%) [19 men (61.3%); mean age: 33±5.0years] participated in the second module. Before the training, the majority of GPs declared a low level of satisfaction about their epilepsy knowledge, which improved after the courses. A change in practices was recorded after the training, with an increased confidence to manage antiepileptic treatment. CONCLUSION Our study showed the significant impact of specific training programs on epilepsy among GPs.


PLOS ONE | 2017

A screening questionnaire for convulsive seizures: A three-stage field-validation in rural Bolivia

Loretta Giuliano; Calogero Edoardo Cicero; Elizabeth Blanca Crespo Gómez; Sandra Padilla; Elisa Bruno; Mario Camargo; Benoît Marin; Vito Sofia; Pierre-Marie Preux; Marianne Strohmeyer; Alessandro Bartoloni; Alessandra Nicoletti

Introduction Epilepsy is one of the most common neurological diseases in Latin American Countries (LAC) and epilepsy associated with convulsive seizures is the most frequent type. Therefore, the detection of convulsive seizures is a priority, but a validated Spanish-language screening tool to detect convulsive seizures is not available. We performed a field validation to evaluate the accuracy of a Spanish-language questionnaire to detect convulsive seizures in rural Bolivia using a three-stage design. The questionnaire was also administered face-to-face, using a two-stage design, to evaluate the difference in accuracy. Methods The study was carried out in the rural communities of the Gran Chaco region. The questionnaire consists of a single screening question directed toward the householders and a confirmatory section administered face-to-face to the index case. Positive subjects underwent a neurological examination to detect false positive and true positive subjects. To estimate the proportion of false negative, a random sample of about 20% of the screened negative underwent a neurological evaluation. Results 792 householders have been interviewed representing a population of 3,562 subjects (52.2% men; mean age 24.5 ± 19.7 years). We found a sensitivity of 76.3% (95% CI 59.8–88.6) with a specificity of 99.6% (95% CI 99.4–99.8). The two-stage design showed only a slightly higher sensitivity respect to the three-stage design. Conclusion Our screening tool shows a good accuracy and can be easily used by trained health workers to quickly screen the population of the rural communities of LAC through the householders using a three-stage design.


Journal of Clinical Virology | 2016

Focal epilepsy as a long term sequela of Parvovirus B19 encephalitis

Concetta Ilenia Palermo; Carmela Maria Costanzo; Concetta Franchina; Giacomo Castiglione; Loretta Giuliano; Raffaela Russo; Alessandro Conti; Vito Sofia; Guido Scalia

Human Parvovirus B19 (PVB19), the etiological agent of the fifth disease, is associated with a large spectrum of pathologies, among which is encephalitis. Since it has been detected from the central nervous system in children or in immunocompromised patients, its causative role in serious neurological manifestations is still unclear. Here we report the case of an 18-year-old healthy boy who developed encephalitis complicated by prolonged status epilepticus. The detection of PVB19 DNA in his serum and, subsequently, in his cerebrospinal fluid supports the hypothesis that this virus could potentially play a role in the pathogenesis of neurological complications. In addition, the detection of viral DNA and the presence of specific IgM and IgG antibodies in serum, together with clinical findings such as skin rash, support the presence of a disseminated viral infection. In the presence of neurological disorders, especially when there are no specific signs, but seizures and rash are present, it is important to search for PVB19 both in immunocompromised and immunocompetent patients. Moreover, the introduction of the PVB19 DNA test into diagnostic protocols of neuropathies, especially those undiagnosed, could clarify the etiological agent that otherwise could remain unrecognized.


Epilepsy & Behavior | 2018

Knowledge and attitudes towards epilepsy among nonmedical health workers in rural Bolivia: Results after a long-term activity in the Chaco region

Loretta Giuliano; Calogero Edoardo Cicero; Sandra Padilla; Mario Camargo; Vito Sofia; Mario Zappia; Alessandro Bartoloni; Elizabeth Blanca Crespo Gómez; Alessandra Nicoletti

INTRODUCTION Epilepsy represents a major global healthcare issue, particularly in low- and middle-income countries (LMIC), where nonmedical health workers play a key role in providing care to people with epilepsy (PWE). Over the last 20 years, many projects have been carried out by our group in the Chaco region, Plurinational State of Bolivia, with the aim of enhancing knowledge about epilepsy. However, the level of knowledge of epilepsy that nonmedical health workers have reached has never been assessed until now. The main objective of our study was to assess the level of knowledge, attitudes, and practices (KAP) towards epilepsy among nonmedical health staff of the rural communities of the Chaco region in Bolivia. METHODS The study was conducted in three departments of Bolivia. The nonmedical health personnel were invited to participate in a training program. They answered a validated questionnaire to evaluate their knowledge and attitudes towards epilepsy before and after the courses. RESULTS One hundred nineteen subjects [42 men (36.2%); mean age 29.3 ± 1.1 years] were interviewed among community health workers and nurses before the courses, demonstrating a very good level of knowledge regarding epilepsy and its causes. Only 55 health workers participated in the second training module, and their answer did not significantly differ from the baseline. CONCLUSION Our study confirms the usefulness of continuous educational campaigns, especially directed to nonspecialist healthcare providers of rural communities of LMIC, as they may be the only persons responsible for providing healthcare to PWE in that setting. Moreover, the importance of the baseline assessment of KAP was highlighted in order to adapt the educational campaigns to the baseline level of knowledge found.


Neurological Sciences | 2016

Drug resistant focal epilepsy in a patient with myotonic dystrophy type 2: casual or causal association?

Loretta Giuliano; Vito Sofia; R. Cardani; G. Meola; Mario Zappia

Myotonic dystrophy type 2 (DM2) is an adult onset muscular dystrophy with multi-systemic involvement. It is caused by an unstable tetranucleotide CCTG repeat expansion located in the first intron of the Cellular Nucleic acid Binding Protein/Zinc Finger Protein 9 (CNBP/ZNF9) on chromosome 3q 21.3. DM2 has variable manifestations such as early-onset cataracts, handgrip myotonia and muscular weakness [1, 2]. Epilepsy is an uncommon feature of DM2: only one report describes the coexistence between DM2 and idiopathic generalized epilepsy [3]. MRI abnormalities within white matter and reduction in gray matter volume have been found in DM2 but focal cortical lesions have never been described [4].


Journal of Clinical Sleep Medicine | 2018

Adult-Onset Sleepwalking Secondary to Hyperthyroidism: Polygraphic Evidence

Loretta Giuliano; Daniela Fatuzzo; Greta Mainieri; Sandro La Vignera; Vito Sofia; Mario Zappia

ABSTRACT Sleepwalking is a disorder characterized by complex motor behaviors arising from slow wave sleep usually occurring in children. The adult onset of sleepwalking suggests the presence of an external precipitating factor leading to the occurrence of the disorder. Hyperthyroidism has been reported to be the possible cause of sleepwalking in a few cases. We present the case of a 36-year-old man who reported a sudden appearance of nocturnal episodes of sleepwalking. He underwent a complete video polysomnography (VPSG), which showed a polygraphic pattern arising from stage N3 sleep related to the presence of simple motor behaviors. Routine blood tests showed a mild hyperthyroidism. After 4 months of thyrostatic treatment, the patient reported no more sleepwalking events. A VPSG performed at the last follow-up showed the absence of pathological electroclinical events arising from stage N3 sleep. Therefore, we hypothesize that there is a link between sleepwalking and thyroid dysfunction in our patient.


Frontiers in Neurology | 2018

Treating People With Epilepsy in Rural Low-Income Countries Is Feasible. Observations and Reflections From a “Real Life Experience” After a Long Lasting Intervention in the Rural Chaco

Alessandra Nicoletti; Loretta Giuliano; Chiara Colli; Calogero Edoardo Cicero; Sandra Padilla; Estela Vilte; David Rojo Mayaregua; Maria Del Carmen Martinez; Mario Camargo; Mario Zappia; Alessandro Bartoloni; Elizabeth Blanca Crespo Gómez

Introduction: Epilepsy represents an important public health issue, in particular in low and middle-income countries where significant disparities are present in the care available for patients with epilepsy. Treatment cost and unavailability of drugs represent important barriers in treating people with epilepsy especially in rural setting. Aim of the study was to evaluate, by means of routine data, the current real-life clinical practice in epilepsy in the rural communities of the Plurinational State of Bolivia. Treatment activity followed educational campaigns and an anthropological fieldwork over more than 20 years. Material and Methods: Medical records of people with epilepsy (PWE) living in the rural communities of the Bolivian Chaco who received antiepileptic drugs (AEDs), from 2012 to 2016, and were followed-up for at least 1 year were analyzed. Treatment delivery and follow up visits were managed by a neurologist with the support of rural health care workers. Results: From 2012 to 2016, 157 PWE (76 men with a mean age of 24.2 ± 15.7) have been included in the study. Structural epilepsy was the most common type, recorded in 54 cases (34.4%) and the most common reported causes were perinatal factors, present in 11 subjects (20.0%). Almost all patients presented epilepsy with generalized tonic-clonic seizures (91.4%). The most common AED prescribed was phenobarbital followed by carbamazepine. During the follow-up, a dramatic seizures reduction was observed, with 31 subjects (19.7%) being seizures-free at the last follow-up. However, 48 subjects (30.6%) did not assume the medication regularly and 10 interrupted the drug intake. More than 20% of PWE did not receive any financial supports for AEDs. During the follow-up period 10 patients died but only in one case the death was probably caused by epilepsy. Conclusion: Our study demonstrated that PWE in rural areas of the Bolivian Chaco are willing to seek medical attention and to receive antiepileptic treatment. However, improvement in care is needed to assure compliance to AED treatment, including activity to increase awareness toward epilepsy among community members and health staff of the rural communities and to guarantee the coverage of treatment costs and drug supply.


European Journal of Medical Genetics | 2018

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

Edoardo Errichiello; Cristina Gorgone; Loretta Giuliano; Barbara Iadarola; Emanuela Cosentino; Marzia Rossato; Nehir Edibe Kurtas; Massimo Delledonne; Teresa Mattina; Orsetta Zuffardi

SOX2 variants have been identified in multiple patients with severe ocular anomalies and pituitary dysfunction, in addition to various systemic features. We investigated a 26-year-old female patient suffering from spastic paraparesis, hypoplasia of corpus callosum, hypogonadotropic hypogonadism (HH) and intellectual disability, who was monitored for over 20 years, allowing a detailed genotype-phenotype correlation along time. Whole exome sequencing on the patient and her relatives identified a de novo SOX2 c.70del20 variant, which has been frequently reported in individuals with SOX2-related anophthalmia. Importantly, our patient lacked major ocular phenotype but showed vaginal agenesis, a feature never reported before. Although the involvement of male urogenital tract (cryptorchidism, hypospadias, small penis), is a well known consequence of SOX2 variants, their effect on the female genitalia has never been properly addressed, even considering the paradoxical female excess of SOX2 cases in the literature. Our findings emphasize the importance of testing for SOX2 variants in individuals with HH and genital anomalies even though anophthalmia or microphthalmia are not observed. Moreover, our case strengthens the role of SOX2 as a master regulator of female gonadal differentiation, as widely demonstrated for other SOX genes related to 46, XX sex reversal, such as SOX3 and SOX9.


Neurological Sciences | 2017

Phenotypical heterogeneity of morpheic seizures in ring chromosome 20 syndrome: a videopolysomnographic evidence

Loretta Giuliano; Daniela Fatuzzo; Greta Mainieri; Vito Sofia; Mario Zappia

Ring chromosome 20 [r(20)] syndrome is characterized by the coexistence of different epileptic seizures: focal seizures, generalized tonic–clonic seizures (GTCS), and non convulsive status epilepticus (NCSE) [1]. Little is known about sleep manifestations in [r(20)] syndrome and only a few studies describe the characteristics of sleep-related seizures in these patients [2]. A lack of description of definite phenotypical features makes difficult any attempt of an early diagnosis. We describe the wide phenotypical heterogeneity of nocturnal seizures in a patient with [r(20)] syndrome. A 35-year-old woman came to our attention for the presence of seizures started from the age of 10. She did not show any dysmorphic feature and her psychomotor development was normal. General and neurological examinations were normal such as her brain magnetic resonance imaging. A cytogenetic study revealed a mosaic pattern with two cell lines, one that was normal (70% of cells) and one with ring chromosome 20 (30% of cells) [46,XX,r(20) (p13 q13)/46,XX]. The patient underwent a videopolysomnography and different types of seizures were recorded during the same night. One type of seizures was characterized by sudden arousals with prolonged confusional state associated with incoherent speech and fluctuating responsiveness. EEG during these events was characterized by continuous generalized spike and slow wave complexes (Fig. 1a). The second type of episodes were represented by focal motor seizures with head and eyes deviation to the left, ipsilateral trunk rotation followed by limbs’ automatisms and clonic movements, lasting for a few minutes (Fig. 1b). Another type of seizure was represented by the patient suddenly sitting on the bed, screaming and moving her arms with a frightened expression (Fig. 1c). Moreover, stereotyped dystonic postures, gestural automatisms, eyelids flickering and ocular exploring movements were recorded. Ictal EEG of the latter episodes showed rhythmic discharges of monomorphic sharp theta activity over the frontal regions. We report the electroclinical features of nocturnal seizures in a patient with [r(20)] syndrome. A wide variety of clinical phenotypes was recorded during the same night: NCSE; seizures of frontal semeiology characterized by head and eyes deviation and clonic movements; events of temporal origin with manifestations of fear; seizures of occipital semeiology characterized by ocular exploring movements; features compatible with a parietal lobe origin such as trunk and arms rotation. To date, there are no videopolysomnographic evidences of the phenotypical heterogeneity of nocturnal seizures in [r(20)] syndrome. The prevalent occurrence of seizures during sleep is a characteristic shared with autosomic dominant nocturnal frontal lobe epilepsy (ADNFLE). It is not surprising that the gene coding for the neuronal nicotinic acetylcholine receptor, subunit A4 (CHRNA4) has been mapped on the distal long arm of chromosome 20 and its mutation or deletion has been identified in ADFNLE [3]. & Mario Zappia [email protected]

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Elizabeth Blanca Crespo Gómez

National Autonomous University of Mexico

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C. Sueri

University of Catania

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