21 results on '"Bianchi, Maria Laura Ester"'
Search Results
2. Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors
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Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Sm, Massa, R, Rastelli, E, Terracciano, C, Antonini, G, Bucci, E, Petrucci, A, Costanzi, S, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella, Boccia, Stefania (ORCID:0000-0002-1864-749X), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Sm, Massa, R, Rastelli, E, Terracciano, C, Antonini, G, Bucci, E, Petrucci, A, Costanzi, S, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella, Boccia, Stefania (ORCID:0000-0002-1864-749X), and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
Recent studies documented an increased risk of neoplasm in patients with myotonic dystrophies (DM). Yet, none of these studies evaluated the contribution of common cancer risk factors in such observation. In this study, we included a cohort of patients (n = 255) with an established molecular diagnosis of DM type 1 (DM1), and who receives their treatment in one of the four centers with recognized expertise in neuromuscular disorders in Rome. We estimated the prevalence of benign and malignant tumors, and assessed if lifestyle factors and/or specific disease features would be associated to their occurrence. Overall, 59 benign tumors in 54 patients and 19 malignant tumors in 17 patients were diagnosed. The most common malignant neoplasms were cancers of the skin (31.6 %), thyroid (21.0 %), ovary (10.5 %), and breast (10.5 %). Uterine fibroid was the most common benign tumor (37.6 %) in women, while pilomatricoma was the most common in men (28.6 %). Age at enrollment (OR = 1.02, 95 % CI 1.00-1.05), and female gender (OR = 5.71, 95 % CI 2.90-11.22) were associated with tumor development in DM1 patients, while thyroid disorders was associated with malignant tumors only in women (OR = 5.12, 95 % CI 1.35-19.37). There was no association between tumor development and evaluated lifestyle factors. In conclusion, the lack of association between common cancer risk factors and tumor development in DM1 support a pathogenic link between tumors and DM1 itself, emphasizing the need for a systematic surveillance. Our observation of an association between thyroid diseases in women and cancer development needs confirmation.
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- 2016
3. An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy.
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Vanacore, N, Rastelli, E, Antonini, G, Bianchi, Maria Laura Ester, Botta, A, Bucci, E, Casali, C, Costanzi Porrini, S, Giacanelli, M, Gibellini, M, Modoni, Anna, Novelli, Giuseppe, Pennisi, Em, Petrucci, A, Piantadosi, C, Silvestri, Gabriella, Terracciano, C, Massa, R., Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Vanacore, N, Rastelli, E, Antonini, G, Bianchi, Maria Laura Ester, Botta, A, Bucci, E, Casali, C, Costanzi Porrini, S, Giacanelli, M, Gibellini, M, Modoni, Anna, Novelli, Giuseppe, Pennisi, Em, Petrucci, A, Piantadosi, C, Silvestri, Gabriella, Terracciano, C, Massa, R., and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
Prevalence estimates for the 2 forms of myotonic dystrophy types 1 and 2 (DM1 and DM2) are not exhaustive or non-available. Our aim was to estimate the minimum prevalence of DM1 and DM2 in Italy in the Rome province, applying standards of descriptive epidemiology. METHODS: All patients with a molecular diagnosis of DM1/DM2 and residents in the Rome province in 2013 have been enrolled, and the age-standardized prevalence has been calculated, assuming a Poisson distribution and adjusting for age. RESULTS: We identified 395 DM1 patients: the age-standardized prevalence for total, females and males was 9.65, 8.35 and 11.07/100,000, respectively. The mean age of subjects differed considerably according to CTG repeat length (p = 0.001). Forty DM2 patients were identified. The age-standardized prevalence for total, females and males was 0.99, 1.07 and 0.90/100,000, respectively. The mean age was 57.05. CONCLUSIONS: We estimated for the first time the age-standardized prevalence and the sex and age distribution of DM1 and DM2 in a general population. A higher prevalence of males in DM1 and females in DM2 and a higher mean age of DM2 patients (+8 years) were ascertained. Prevalence of DM2 was 10% that of DM1. These prevalence values are probably lower than mutational rates due to the incomplete penetrance of DM1 mutations and to the clinical elusiveness of DM2. Our findings will be useful in designing cohort studies and for developing a disease registry.
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- 2016
4. Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors
- Author
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Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Shahinaz M., Massa, Roberto, Rastelli, Emanuele, Terracciano, Chiara, Antonini, Giovanni, Bucci, Elisabetta, Petrucci, Antonio, Costanzi, Sandro, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella, Boccia, Stefania (ORCID:0000-0002-1864-749X), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Shahinaz M., Massa, Roberto, Rastelli, Emanuele, Terracciano, Chiara, Antonini, Giovanni, Bucci, Elisabetta, Petrucci, Antonio, Costanzi, Sandro, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella, Boccia, Stefania (ORCID:0000-0002-1864-749X), and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
Recent studies documented an increased risk of neoplasm in patients with myotonic dystrophies (DM). Yet, none of these studies evaluated the contribution of common cancer risk factors in such observation. In this study, we included a cohort of patients (n = 255) with an established molecular diagnosis of DM type 1 (DM1), and who receives their treatment in one of the four centers with recognized expertise in neuromuscular disorders in Rome. We estimated the prevalence of benign and malignant tumors, and assessed if lifestyle factors and/or specific disease features would be associated to their occurrence. Overall, 59 benign tumors in 54 patients and 19 malignant tumors in 17 patients were diagnosed. The most common malignant neoplasms were cancers of the skin (31.6 %), thyroid (21.0 %), ovary (10.5 %), and breast (10.5 %). Uterine fibroid was the most common benign tumor (37.6 %) in women, while pilomatricoma was the most common in men (28.6 %). Age at enrollment (OR = 1.02, 95 % CI 1.00–1.05), and female gender (OR = 5.71, 95 % CI 2.90–11.22) were associated with tumor development in DM1 patients, while thyroid disorders was associated with malignant tumors only in women (OR = 5.12, 95 % CI 1.35–19.37). There was no association between tumor development and evaluated lifestyle factors. In conclusion, the lack of association between common cancer risk factors and tumor development in DM1 support a pathogenic link between tumors and DM1 itself, emphasizing the need for a systematic surveillance. Our observation of an association between thyroid diseases in women and cancer development needs confirmation.
- Published
- 2016
5. Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors (J Nerol, 10.1007/s00415-015-8006-y)
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Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Shahinaz M., Massa, Roberto, Botta, Annalisa, Rastelli, Emanuele, Terracciano, Chiara, Antonini, Giovanni, Bucci, Elisabetta, Petrucci, Antonio, Costanzi, Sandro, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella, Boccia, Stefania (ORCID:0000-0002-1864-749X), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Bianchi, Maria Laura Ester, Leoncini, Emanuele, Masciullo, Marcella, Modoni, Anna, Gadalla, Shahinaz M., Massa, Roberto, Botta, Annalisa, Rastelli, Emanuele, Terracciano, Chiara, Antonini, Giovanni, Bucci, Elisabetta, Petrucci, Antonio, Costanzi, Sandro, Santoro, Massimo, Boccia, Stefania, Silvestri, Gabriella, Boccia, Stefania (ORCID:0000-0002-1864-749X), and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
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- 2016
6. Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study
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Zampetti, Anna, Silvestri, Gabriella, Manco, Simona, Khamis, K, Masciullo, Marcella, Bianchi, Maria Laura Ester, Damiani, A, Santoro, Massimo, Linder, D, Bewley, A, Feliciani, Claudio, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Zampetti, Anna, Silvestri, Gabriella, Manco, Simona, Khamis, K, Masciullo, Marcella, Bianchi, Maria Laura Ester, Damiani, A, Santoro, Massimo, Linder, D, Bewley, A, Feliciani, Claudio, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
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- 2015
7. Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1)
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Santoro, Massimo, Fontana, L, Masciullo, Marcella, Bianchi, Maria Laura Ester, Rossi, Salvatore, Leoncini, Emanuele, Novelli, G, Botta, A, Silvestri, Gabriella, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Santoro, Massimo, Fontana, L, Masciullo, Marcella, Bianchi, Maria Laura Ester, Rossi, Salvatore, Leoncini, Emanuele, Novelli, G, Botta, A, Silvestri, Gabriella, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
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- 2015
8. Central Nervous System involvement in Myotonic Dystrophies
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Silvestri, Gabriella, Modoni, Anna, Bianchi, Maria Laura Ester, Marra, Camillo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Marra, Camillo (ORCID:0000-0003-3994-4044), Silvestri, Gabriella, Modoni, Anna, Bianchi, Maria Laura Ester, Marra, Camillo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), and Marra, Camillo (ORCID:0000-0003-3994-4044)
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- 2015
9. Author response.
- Author
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Silvestri, Gabriella, Bianchi, Maria Laura Ester, Losurdo, Anna, Della Marca, Giacomo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Silvestri, Gabriella, Bianchi, Maria Laura Ester, Losurdo, Anna, Della Marca, Giacomo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), and Della Marca, Giacomo (ORCID:0000-0001-6914-799X)
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- 2014
10. Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.
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Bianchi, Maria Laura Ester, Losurdo, Anna, Di Blasi, Chiara, Santoro, Massimo, Masciullo, Marcella, Conte, G, Valenza, Venanzio, Damiani, A, Della Marca, Giacomo, Silvestri, Gabriella, Valenza, Venanzio (ORCID:0000-0002-0023-6625), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Bianchi, Maria Laura Ester, Losurdo, Anna, Di Blasi, Chiara, Santoro, Massimo, Masciullo, Marcella, Conte, G, Valenza, Venanzio, Damiani, A, Della Marca, Giacomo, Silvestri, Gabriella, Valenza, Venanzio (ORCID:0000-0002-0023-6625), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are the most common muscular dystrophies in adulthood. A high prevalence of excessive daytime sleepiness (EDS) and sleep disordered breathing was documented in DM1; however, there are limited data available regarding DM2. Goals of the study were: (1) to evaluate the prevalence of sleep apnea in a large cohort of patients (71 DM1 and 14 DM2) and (2) to analyze correlations among such disorders and clinical features of myotonic dystrophies. METHODS: All patients underwent clinical examination, subjective sleep evaluation, and home based cardiorespiratory monitoring, and most of them performed pulmonary function tests and oropharyngeal-oesophageal scintigraphy (OPES). RESULTS: Almost 45 % of patients reported poor sleep quality; only 20 % of them referred EDS. Sleep studies documented sleep apnea, mostly obstructive, in 69 % DM1 patients and 43 % DM2 patients; overall, 28 % of cases needed non-invasive ventilation. Neither age, gender, illness duration, body mass index, muscle involvement, OPES respiratory function indexes, nor n(CTG) in leukocytes were predictive of sleep apnea in DM1 patients. Conversely, in DM1 the central apnea-hypopnea index is correlated with the oral transit time estimated by OPES, whereas in DM2 apnea indexes are correlated with pulmonary function parameters. CONCLUSIONS: Sleep apnea is highly prevalent in both forms of myotonic dystrophies. In DM1, no clinical parameters appear to be predictive, while age appears to influence the severity of the obstructive variant; in DM2, the severity of sleep apnea is correlated with the degree of respiratory muscle involvement. Considering the harmful consequences of sleep apnea on cardiorespiratory function, our findings suggest including PSG in the follow-up of myotonic dystrophies
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- 2014
11. Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.
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Silvestri, Gabriella, Bianchi, Maria Laura Ester, Losurdo, Anna, Della Marca, Giacomo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Della Marca, Giacomo (ORCID:0000-0001-6914-799X), Silvestri, Gabriella, Bianchi, Maria Laura Ester, Losurdo, Anna, Della Marca, Giacomo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), and Della Marca, Giacomo (ORCID:0000-0001-6914-799X)
- Abstract
n/a
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- 2014
12. Abnormal Functional Brain Connectivity and Personality Traits in Myotonic Dystrophy Type 1
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Silvestri, Gabriella, Serra, Laura, Petrucci, Antonio, Masciullo, Marcella, Basile, B, Makovac, E, Torso, M, Spanò, B, Mastropasqua, C, Harrison, Na, Bianchi, Maria Laura Ester, Caltagirone, C, Cercignani, M, Giacanelli, M., Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Silvestri, Gabriella, Serra, Laura, Petrucci, Antonio, Masciullo, Marcella, Basile, B, Makovac, E, Torso, M, Spanò, B, Mastropasqua, C, Harrison, Na, Bianchi, Maria Laura Ester, Caltagirone, C, Cercignani, M, Giacanelli, M., and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
IMPORTANCE Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy observed in adults, is a genetic multisystem disorder affecting several other organs besides skeletal muscle, including the brain. Cognitive and personality abnormalities have been reported; however, no studies have investigated brain functional networks and their relationship with personality traits/disorders in patients with DM1. OBJECTIVE To use resting-state functional magnetic resonance imaging to assess the potential relationship between personality traits/disorders and changes to functional connectivity within the default mode network (DMN) in patients with DM1. DESIGN, SETTING, AND PARTICIPANTS We enrolled 27 patients with genetically confirmed DM1 and 16 matched healthy control individuals. Patients underwent personality assessment using clinical interview and Minnesota Multiphasic Personality Inventory-2 administration; all participants underwent resting-state functional magnetic resonance imaging. Investigations were conducted at the Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation, Catholic University of Sacred Heart, and Azienda Ospedaliera San Camillo Forlanini. INTERVENTION Resting-state functional magnetic resonance imaging. MAIN OUTCOMES AND MEASURES Measures of personality traits in patients and changes in functional connectivity within the DMN in patients and controls. Changes in functional connectivity and atypical personality traits in patients were correlated. RESULTS We combined results obtained from the Minnesota Multiphasic Personality Inventory-2 and clinical interview to identify a continuum of atypical personality profiles ranging from schizotypal personality traits to paranoid personality disorder within our DM1 patients. We also demonstrated an increase in functional connectivity in the bilateral posterior cingulate and left parietal DMN nodes in DM1 patients compared with controls. Moreover, patients with DM1 showed strong associati
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- 2014
13. Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS
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Silvestri, Gabriella, Masciullo, Marcella, Modoni, Anna, Bianchi, Maria Laura Ester, Santorelli, Filippo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Silvestri, Gabriella, Masciullo, Marcella, Modoni, Anna, Bianchi, Maria Laura Ester, Santorelli, Filippo, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
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- 2014
14. Fibular nerve neurotmesis secondary to knee trauma: A diagnosis requiring nerve ultrasound
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Bianchi, Maria Laura Ester, Granata, Giuseppe, Coraci, D, Padua, Luca, Padua, Luca (ORCID:0000-0003-2570-9326), Bianchi, Maria Laura Ester, Granata, Giuseppe, Coraci, D, Padua, Luca, and Padua, Luca (ORCID:0000-0003-2570-9326)
- Abstract
Peripheral nerve trauma may be the result of contusion, laceration, mechanical damage by bone fragments, stretching and traction, or iatrogenic causes. In closed trauma, it is often challenging to detect the site, mechanism, and severity of nerve damage (Padua et al., 2012). Ultrasound (US) is a relatively new, but useful tool in the diagnosis of peripheral nerve disease, complementing the electrodiagnostic (EDx) evaluation (Beekman and Visser, 2003). One of its most important contributions is the ability to differentiate axonotmesis from neurotmesis soon after acute injury, providing detailed information useful for surgery (Padua et al., 2012).
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- 2013
15. fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1
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Caliandro, Pietro, Silvestri, Gabriella, Padua, Luca, Bianchi, Maria Laura Ester, Simbolotti, C, Russo, G, Masciullo, Marcella, Rossini, Paolo Maria, Caliandro, Pietro (ORCID:0000-0002-1190-4879), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Padua, Luca (ORCID:0000-0003-2570-9326), Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Caliandro, Pietro, Silvestri, Gabriella, Padua, Luca, Bianchi, Maria Laura Ester, Simbolotti, C, Russo, G, Masciullo, Marcella, Rossini, Paolo Maria, Caliandro, Pietro (ORCID:0000-0002-1190-4879), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Padua, Luca (ORCID:0000-0003-2570-9326), and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)
- Abstract
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is characterized by a multisystem involvement. Cognitive involvement predominantly affecting frono-temporal functions is an established clinical feature in this disorder. Brain imaging and metabolic studies showed a predominant involvement of fronto-temporal regions in DM1 patients, yet correlation studies among these findings and neuropsychological data gave contrasting results. In order to contribute to clarify the relationship between the metabolic changes documented in the frontal cortex of DM1 patients and a related cognitive task, we applied the functional near-infrared spectroscopy (fNIRS) during the execution of a phonemic verbal fluency task (pVFT).
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- 2013
16. Remitting-Relapsing Carbamazepine Overdosage Mimicking Vertebrobasilar Transient Ischemic Attacks
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Silvestri, Gabriella, Bianchi, Maria Laura Ester, Masciullo, Marcella, Ricci, Enzo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella, Bianchi, Maria Laura Ester, Masciullo, Marcella, Ricci, Enzo, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), and Ricci, Enzo (ORCID:0000-0003-3092-3597)
- Abstract
The objective of this article is to describe an atypical, remitting-relapsing presentation of carbamazepine toxicity due to its interaction with nebivolol. The method we use is a case report of an elderly epileptic patient in treatment with antiepileptic drugs (AEDs) and antihypertensive drugs, manifesting transient neurological symptoms in association with high blood pressure values. The case report is of a 72-year-old male by forty years of age had tonic-clonic seizures related to the presence of a cerebral arteriovenous malformation. Seizures had been successfully controlled for many years by the same dosage of carbamazepine and lamotrigine, and recently total serum carbamazepine levels resulted within the “therapeutic range.” He had also a history of controlled essential hypertension, but lately he manifested a scarce control of his blood pressure values. Few days after a modification of his antihypertensive therapy, the patient had two transient episodes of dysarthria, ataxia, and dizziness. At the emergency department, his blood pressure values were 190/110 mmHg, ECG and routine blood tests were normal, and a brain CT did not show acute lesions; about two hours later, his neurological examination was normal. Morning fasting carbamazepine serum levels were “normal” too; therefore, his symptoms were initially interpreted as vertebrobasilar transient ischemic attacks. However, the recurrence of similar episodes despite the normalization of his blood pressure suggested a carbamazepine intoxication. Indeed, its dosage resulted too high just in occasion of one of his attacks. A moderate reduction of carbamazepine was followed by cessation of toxicity. This case reminds us to be aware of adverse consequences of other drugs in patients assuming carbamazepine: in this case, its toxicity was consequential to a likely metabolic interaction with nebivolol.
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- 2013
17. fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1
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Caliandro, Pietro, Silvestri, Gabriella, Padua, Luca, Bianchi, Maria Laura Ester, Simbolotti, C, Russo, G, Masciullo, Marcella, Rossini, Paolo Maria, Caliandro, Pietro (ORCID:0000-0002-1190-4879), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Padua, Luca (ORCID:0000-0003-2570-9326), Rossini, Paolo Maria (ORCID:0000-0003-2665-534X), Caliandro, Pietro, Silvestri, Gabriella, Padua, Luca, Bianchi, Maria Laura Ester, Simbolotti, C, Russo, G, Masciullo, Marcella, Rossini, Paolo Maria, Caliandro, Pietro (ORCID:0000-0002-1190-4879), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Padua, Luca (ORCID:0000-0003-2570-9326), and Rossini, Paolo Maria (ORCID:0000-0003-2665-534X)
- Abstract
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is characterized by a multisystem involvement. Cognitive involvement predominantly affecting frono-temporal functions is an established clinical feature in this disorder. Brain imaging and metabolic studies showed a predominant involvement of fronto-temporal regions in DM1 patients, yet correlation studies among these findings and neuropsychological data gave contrasting results. In order to contribute to clarify the relationship between the metabolic changes documented in the frontal cortex of DM1 patients and a related cognitive task, we applied the functional near-infrared spectroscopy (fNIRS) during the execution of a phonemic verbal fluency task (pVFT).
- Published
- 2013
18. Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2
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Santoro, Massimo, Masciullo, Marcella, Bonvissuto, Davide, Bianchi, Maria Laura Ester, Michetti, Fabrizio, Silvestri, Gabriella, Michetti, Fabrizio (ORCID:0000-0003-2546-0532), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Santoro, Massimo, Masciullo, Marcella, Bonvissuto, Davide, Bianchi, Maria Laura Ester, Michetti, Fabrizio, Silvestri, Gabriella, Michetti, Fabrizio (ORCID:0000-0003-2546-0532), and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
INSR, one of those genes aberrantly expressed in myotonic dystrophy type 1 (DM1) and type 2 (DM2) due to a toxic RNA effect, encodes for the insulin receptor (IR). Its expression is regulated by alternative splicing generating two isoforms: IR-A, which predominates in embryonic tissue, and IR-B, which is highly expressed in adult, insulin-responsive tissues (skeletal muscle, liver, and adipose tissue). The aberrant INSR expression detected in DM1 and DM2 muscles tissues, characterized by a relative increase of IR-A versus IR-B, was pathogenically related to the insulin resistance occurring in DM patients. To assess if differences in the aberrant splicing of INSR could underlie the distinct fiber type involvement observed in DM1 and DM2 muscle tissues, we have used laser capture microdissection (LCM) and RT-PCR, comparing the alternative splicing of INSR in type I and type II muscle fibers isolated from muscle biopsies of DM1, DM2 patients and controls. In the controls, the relative amounts of IR-A and IR-B showed no obvious differences between type I and type II fibers, as in the whole muscle tissue. In DM1 and DM2 patients, both fiber types showed a similar, relative increase of IR-A versus IR-B, as also evident in the whole muscle tissue. Our data suggest that the distinct fiber type involvement in DM1 and DM2 muscle tissues would not be related to qualitative differences in the expression of INSR. LCM can represent a powerful tool to give a better understanding of the pathogenesis of myotonic dystrophies, as well as other myopathies.
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- 2013
19. Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study
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Masciullo, Marcella, Iannaccone, E, Bianchi, Maria Laura Ester, Santoro, Massimo, Conte, Giulia, Monforte, Mauro, Tasca, Giorgio, Laschena, Francesco, Ricci, Enzo, Silvestri, Gabriella, Ricci, Enzo (ORCID:0000-0003-3092-3597), Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Masciullo, Marcella, Iannaccone, E, Bianchi, Maria Laura Ester, Santoro, Massimo, Conte, Giulia, Monforte, Mauro, Tasca, Giorgio, Laschena, Francesco, Ricci, Enzo, Silvestri, Gabriella, Ricci, Enzo (ORCID:0000-0003-3092-3597), and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
Here we describe the first case of myotonic dystrophy type 1 (DM1) associated with facio–scapulo–humeral dystrophy (FSHD). From a clinical point of view, the patient displayed a pattern of muscle involvement reminiscent of both disorders, including hand-grip myotonia, facial, axial and distal limbs muscle weakness as well as a bilateral winged scapula associated with atrophy of the pectoralis major muscle and lumbar lordosis; pelvic muscles were mostly spared. An extensive muscle MRI assessment including neck, shoulder, abdominal, pelvic and lower limb muscles documented radiological features typical of DM1 and FSDH. Molecular genetic studies confirmed that the proband carried both a pathologically expanded DMPK allele, inherited from his father, and a de novo shortened D4Z4 repeat fragment at 4q35 locus.
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- 2013
20. Double site nerve lesion: ultrasound diagnosed musculocutaneous involvement in traumatic Brachial Plexus injury
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Bianchi, Maria Laura Ester, Padua, Luca, Granata, Giuseppe, Erra, Carmen, Padua, Luca (ORCID:0000-0003-2570-9326), Bianchi, Maria Laura Ester, Padua, Luca, Granata, Giuseppe, Erra, Carmen, and Padua, Luca (ORCID:0000-0003-2570-9326)
- Abstract
Brachial plexus (BP) injury with non homogeneous involvement of muscles innervated by the same root, trunk or cord is common. Isolated musculocutaneous (MSC) nerve damage is instead rare, and electrophysiological demonstration is based mainly on needle EMG and sensory nerve conduction evaluation of lateral antebrachial cutaneous nerve. Conduction velocity study of MSC nerve is not feasible because of the nerve anatomical course. The electrodiagnostic evaluation of MSC nerve is even more difficult when BP damage coexists. Ultrasound (US) has recently been introduced as useful tool for the diagnosis of peripheral nerve lesions. Recently advances in US technology have made it possible to study very small nerves (also those not easily assessed through electrodiagnostic evaluation). Although US does not replace electrodiagnostic studies, it is a useful complementary investigation.
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- 2013
21. Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions
- Author
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Santoro, Massimo, Masciullo, Marcella, Pietrobono, Roberta, Conte, G, Modoni, Anna, Bianchi, Maria Laura Ester, Rizzo, Valentina, Pomponi, Maria Grazia, Tasca, Giorgio, Neri, Giovanni, Silvestri, Gabriella, Silvestri, Gabriella (ORCID:0000-0002-1950-1468), Santoro, Massimo, Masciullo, Marcella, Pietrobono, Roberta, Conte, G, Modoni, Anna, Bianchi, Maria Laura Ester, Rizzo, Valentina, Pomponi, Maria Grazia, Tasca, Giorgio, Neri, Giovanni, Silvestri, Gabriella, and Silvestri, Gabriella (ORCID:0000-0002-1950-1468)
- Abstract
We assessed clinical, molecular and muscle histopathological features in five unrelated Italian DM1 patients carrying novel variant pathological expansions containing CCG interruptions within the 3'-end of the CTG array at the DMPK locus, detected by bidirectional triplet primed PCR (TP-PCR) and sequencing. Three patients had a negative DM1 testing by routine long-range PCR; the other two patients were identified among 100 unrelated DM1 cases and re-evaluated to estimate the prevalence of variant expansions. The overall prevalence was 4.8 % in our study cohort. There were no major clinical differences between variant and non-variant DM1 patients, except for cognitive involvement. Muscle RNA-FISH, immunofluorescence for MBNL1 and RT-PCR analysis documented the presence of ribonuclear inclusions, their co-localization with MBNL1, and an aberrant splicing pattern involved in DM1 pathogenesis, without any obvious differences between variant and non-variant DM1 patients. Therefore, this study shows that the CCG interruptions at the 3'-end of expanded DMPK alleles do not produce qualitative effects on the RNA-mediated toxic gain-of-function in DM1 muscle tissues. Finally, our results support the conclusion that different patterns of CCG interruptions within the CTG array could modulate the DM1 clinical phenotype, variably affecting the mutational dynamics of the variant repeat.
- Published
- 2012
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