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3. Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

Author

Pareyson, D, Pantaleoni, C, Eleopra, R, De Filippis, G, Moroni, I, Freri, E, Zibordi, F, Bulgheroni, S, Pagliano, E, Sarti, D, Silvani, A, Grazzi, L, Tiraboschi, P, Didato, G, Anghileri, E, Bersano, A, Valentini, L, Piacentini, S, Muscio, C, Leonardi, M, Mariotti, C, Eoli, M, Nuzzo, S, Tagliavini, F, Confalonieri, P, De Giorgi, F, Antozzi, C, Ardissone, A, Bersano, E, Boncoraglio, G, Bonvegna, S, Botturi, A, Brambilla, L, Canafoglia, L, Caputi, L, Caroppo, P, Carriero, M, Casali, C, Casazza, M, Catania, A, Ciaccio, C, Cilia, R, Dallabella, E, D'Amico, D, Danti, F, D'Arrigo, S, Decurtis, M, Deleo, F, Devigili, G, Difede, G, Digiacomo, R, Elia, A, Esposito, S, Estienne, M, Fenu, S, Fichera, M, Finocchiaro, G, Frangiamore, R, Gatti, M, Gaviani, P, Giaccone, G, Giani, L, Giovagnoli, A, Andreasi, N, Granata, T, Granocchio, E, Lamperti, C, Lamperti, E, Leone, M, Masson, R, Nanetti, L, Nardocci, N, Pastori, C, Pisciotta, C, Cecchini, A, Ragona, F, Redaelli, V, Saletti, V, Salsano, E, Scelzo, E, Solazzi, R, Tozzo, A, Usai, S, Zorzi, G, Arnoldi, M, Foscan, M, Marchi, A, Pedrinelli, I, Zanin, R, Gazzola, S, Magazu, S, Scopelliti, M, Casalino, T, Desalvatore, M, Mazzanti, S, Taddei, M, Fedeli, A, Sattin, D, Galimberti, L, Zagari, R, Bombonato, M, Fonte, L, Floridia, S, Pareyson D., Pantaleoni C., Eleopra R., De Filippis G., Moroni I., Freri E., Zibordi F., Bulgheroni S., Pagliano E., Sarti D., Silvani A., Grazzi L., Tiraboschi P., Didato G., Anghileri E., Bersano A., Valentini L., Piacentini S., Muscio C., Leonardi M., Mariotti C., Eoli M., Nuzzo S., Tagliavini F., Confalonieri P., De Giorgi F., Antozzi C., Ardissone A., Bersano E., Boncoraglio G., Bonvegna S., Botturi A., Brambilla L., Canafoglia L., Caputi L., Caroppo P., Carriero M. R., Casali C., Casazza M., Catania A., Ciaccio C., Cilia R., DallaBella E., D'Amico D., Danti F. R., D'Arrigo S., DeCurtis M., Deleo F., Devigili G., DiFede G., DiGiacomo R., Elia A., Esposito S., Estienne M., Fenu S., Fichera M., Finocchiaro G., Frangiamore R., Gatti M., Gaviani P., Giaccone G., Giani L., Giovagnoli A. R., Andreasi N. G., Granata T., Granocchio E., Lamperti C., Lamperti E., Leone M., Masson R., Nanetti L., Nardocci N., Pastori C., Pisciotta C., Cecchini A. P., Ragona F., Redaelli V., Saletti V., Salsano E., Scelzo E., Solazzi R., Tozzo A., Usai S., Zorzi G., Arnoldi M. T., Foscan M., Marchi A., Pedrinelli I., Zanin R., Gazzola S., Magazu S., Scopelliti M. R., Casalino T., DeSalvatore M., Mazzanti S., Taddei M., Fedeli A., Sattin D., Galimberti L., Zagari R., Bombonato M., Fonte L., Floridia S., Pareyson, D, Pantaleoni, C, Eleopra, R, De Filippis, G, Moroni, I, Freri, E, Zibordi, F, Bulgheroni, S, Pagliano, E, Sarti, D, Silvani, A, Grazzi, L, Tiraboschi, P, Didato, G, Anghileri, E, Bersano, A, Valentini, L, Piacentini, S, Muscio, C, Leonardi, M, Mariotti, C, Eoli, M, Nuzzo, S, Tagliavini, F, Confalonieri, P, De Giorgi, F, Antozzi, C, Ardissone, A, Bersano, E, Boncoraglio, G, Bonvegna, S, Botturi, A, Brambilla, L, Canafoglia, L, Caputi, L, Caroppo, P, Carriero, M, Casali, C, Casazza, M, Catania, A, Ciaccio, C, Cilia, R, Dallabella, E, D'Amico, D, Danti, F, D'Arrigo, S, Decurtis, M, Deleo, F, Devigili, G, Difede, G, Digiacomo, R, Elia, A, Esposito, S, Estienne, M, Fenu, S, Fichera, M, Finocchiaro, G, Frangiamore, R, Gatti, M, Gaviani, P, Giaccone, G, Giani, L, Giovagnoli, A, Andreasi, N, Granata, T, Granocchio, E, Lamperti, C, Lamperti, E, Leone, M, Masson, R, Nanetti, L, Nardocci, N, Pastori, C, Pisciotta, C, Cecchini, A, Ragona, F, Redaelli, V, Saletti, V, Salsano, E, Scelzo, E, Solazzi, R, Tozzo, A, Usai, S, Zorzi, G, Arnoldi, M, Foscan, M, Marchi, A, Pedrinelli, I, Zanin, R, Gazzola, S, Magazu, S, Scopelliti, M, Casalino, T, Desalvatore, M, Mazzanti, S, Taddei, M, Fedeli, A, Sattin, D, Galimberti, L, Zagari, R, Bombonato, M, Fonte, L, Floridia, S, Pareyson D., Pantaleoni C., Eleopra R., De Filippis G., Moroni I., Freri E., Zibordi F., Bulgheroni S., Pagliano E., Sarti D., Silvani A., Grazzi L., Tiraboschi P., Didato G., Anghileri E., Bersano A., Valentini L., Piacentini S., Muscio C., Leonardi M., Mariotti C., Eoli M., Nuzzo S., Tagliavini F., Confalonieri P., De Giorgi F., Antozzi C., Ardissone A., Bersano E., Boncoraglio G., Bonvegna S., Botturi A., Brambilla L., Canafoglia L., Caputi L., Caroppo P., Carriero M. R., Casali C., Casazza M., Catania A., Ciaccio C., Cilia R., DallaBella E., D'Amico D., Danti F. R., D'Arrigo S., DeCurtis M., Deleo F., Devigili G., DiFede G., DiGiacomo R., Elia A., Esposito S., Estienne M., Fenu S., Fichera M., Finocchiaro G., Frangiamore R., Gatti M., Gaviani P., Giaccone G., Giani L., Giovagnoli A. R., Andreasi N. G., Granata T., Granocchio E., Lamperti C., Lamperti E., Leone M., Masson R., Nanetti L., Nardocci N., Pastori C., Pisciotta C., Cecchini A. P., Ragona F., Redaelli V., Saletti V., Salsano E., Scelzo E., Solazzi R., Tozzo A., Usai S., Zorzi G., Arnoldi M. T., Foscan M., Marchi A., Pedrinelli I., Zanin R., Gazzola S., Magazu S., Scopelliti M. R., Casalino T., DeSalvatore M., Mazzanti S., Taddei M., Fedeli A., Sattin D., Galimberti L., Zagari R., Bombonato M., Fonte L., and Floridia S.

Abstract

Background: Lombardy was severely hit by the COVID-19 pandemic since February 2020 and the Health System underwent rapid reorganization. Outpatient clinics were stopped for non-urgent patients: it became a priority to manage hundreds of fragile neurological patients who suddenly had less reference points. In Italy, before the pandemic, Televisits were neither recognized nor priced. Methods: At the Fondazione IRCCS Istituto Neurologico C. Besta, we reorganized outpatient clinics to deliver Neuro-telemedicine services, including Televisits and Teleneurorehabilitation, since March 2020. A dedicated Working Group prepared the procedure, tested the system, and designed satisfaction questionnaires for adults and children. Results: After a pilot phase, we prepared a procedure for Telemedicine outpatient clinics which was approved by hospital directions. It included prescription, booking, consenting, privacy and data protection, secure connection with patients (Teams Microsoft 365), electronic report preparation and delivery, reporting, and accountability of the services. During the March–September 2020 period, we delivered 3167 Telemedicine services, including 1618 Televisits, to 1694 patients (972 adults, 722 children) with a wide range of chronic neurological disorders. We successfully administered different clinical assessment and scales. Satisfaction among patients and caregivers was very high. Conclusions: During the dramatic emergency, we were able to take care of more than 1600 patients by organizing Neuro-telehealth in a few weeks, lessening the impact of the pandemic on fragile patients with chronic neurological disorders; this strategy is now stably embedded in our care pathways. In Italy, Telehealth is at present recognized and priced and is becoming a stable pillar of the health system.

Published
2021

4. Automatic imitation in youngsters with Gilles de la Tourette syndrome: A behavioral study

Author

Quadrelli, E, Bartoli, B, Bolognini, N, Cavanna, A, Zibordi, F, Nardocci, N, Turati, C, Termine, C, Quadrelli, E., Bartoli, B., Bolognini, N., Cavanna, A. E., Zibordi, F., Nardocci, N., Turati, C., Termine, C., Quadrelli, E, Bartoli, B, Bolognini, N, Cavanna, A, Zibordi, F, Nardocci, N, Turati, C, Termine, C, Quadrelli, E., Bartoli, B., Bolognini, N., Cavanna, A. E., Zibordi, F., Nardocci, N., Turati, C., and Termine, C.

Abstract

It is widely known that humans have a tendency to imitate each other and that appropriate modulation of automatic imitative behaviors has a crucial function in social interactions. Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric disorder characterized by motor and phonic tics. Apart from tics, patients with GTS are often reported to show an abnormal tendency to automatically imitate others’ behaviors (i.e., echophenomena), which may be related to a failure in top-down inhibition of imitative response tendencies. The aim of the current study is to explore the top-down inhibitory mechanisms on automatic imitative behaviors in youngsters with GTS. Error rates and reaction times from 32 participants with GTS and 32 controls were collected in response to an automatic imitation task assessing the influence of observed movements displayed in the first-person perspective on congruent and incongruent motor responses. Results showed that participants with GTS had higher error rates than controls, and their responses were faster than those of controls in incompatible stimuli. Our findings provide novel evidence of a key difference between youngsters with GTS and typically developing participants in the ability to effectively control the production of own motor responses to sensory inputs deriving from observed actions.

Published
2021

5. Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.

Author

van Geest, FS, Groeneweg, S, van den Akker, ELT, Bacos, I, Barca, D, van den Berg, SAA, Bertini, E, Brunner, D, Brunetti-Pierri, N, Cappa, M, Cappuccio, G, Chatterjee, K, Chesover, AD, Christian, P, Coutant, R, Craiu, D, Crock, P, Dewey, C, Dica, A, Dimitri, P, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Kłosowska, A, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Monti Lora, F, Moran, C, Müller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Reinauer, C, de Rijke, YB, Seckold, R, Menevşe, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van Toor, H, Turan, S, Vanderniet, J, de Waart, M, van der Wal, R, van der Walt, A, van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Peeters, RP, Visser, WE, van Geest, FS, Groeneweg, S, van den Akker, ELT, Bacos, I, Barca, D, van den Berg, SAA, Bertini, E, Brunner, D, Brunetti-Pierri, N, Cappa, M, Cappuccio, G, Chatterjee, K, Chesover, AD, Christian, P, Coutant, R, Craiu, D, Crock, P, Dewey, C, Dica, A, Dimitri, P, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, Garibaldi, LR, George, B, Hackenberg, A, Heinrich, B, Huynh, T, Kłosowska, A, Lawson-Yuen, A, Linder-Lucht, M, Lyons, G, Monti Lora, F, Moran, C, Müller, KE, Paone, L, Paul, PG, Polak, M, Porta, F, Reinauer, C, de Rijke, YB, Seckold, R, Menevşe, TS, Simm, P, Simon, A, Spada, M, Stoupa, A, Szeifert, L, Tonduti, D, van Toor, H, Turan, S, Vanderniet, J, de Waart, M, van der Wal, R, van der Walt, A, van Wermeskerken, A-M, Wierzba, J, Zibordi, F, Zung, A, Peeters, RP, and Visser, WE

Abstract

CONTEXT: Patients with mutations in thyroid hormone transporter MCT8 have developmental delay and chronic thyrotoxicosis associated with being underweight and having cardiovascular dysfunction. OBJECTIVE: Our previous trial showed improvement of key clinical and biochemical features during 1-year treatment with the T3 analogue Triac, but long-term follow-up data are needed. METHODS: In this real-life retrospective cohort study, we investigated the efficacy of Triac in MCT8-deficient patients in 33 sites. The primary endpoint was change in serum T3 concentrations from baseline to last available measurement. Secondary endpoints were changes in other thyroid parameters, anthropometric parameters, heart rate, and biochemical markers of thyroid hormone action. RESULTS: From October 15, 2014 to January 1, 2021, 67 patients (median baseline age 4.6 years; range, 0.5-66) were treated up to 6 years (median 2.2 years; range, 0.2-6.2). Mean T3 concentrations decreased from 4.58 (SD 1.11) to 1.66 (0.69) nmol/L (mean decrease 2.92 nmol/L; 95% CI, 2.61-3.23; P < 0.0001; target 1.4-2.5 nmol/L). Body-weight-for-age exceeded that of untreated historical controls (mean difference 0.72 SD; 95% CI, 0.36-1.09; P = 0.0002). Heart-rate-for-age decreased (mean difference 0.64 SD; 95% CI, 0.29-0.98; P = 0.0005). SHBG concentrations decreased from 245 (99) to 209 (92) nmol/L (mean decrease 36 nmol/L; 95% CI, 16-57; P = 0.0008). Mean creatinine concentrations increased from 32 (11) to 39 (13) µmol/L (mean increase 7 µmol/L; 95% CI, 6-9; P < 0.0001). Mean creatine kinase concentrations did not significantly change. No drug-related severe adverse events were reported. CONCLUSIONS: Key features were sustainably alleviated in patients with MCT8 deficiency across all ages, highlighting the real-life potential of Triac for MCT8 deficiency.

Published
2022

6. Neuro-telehealth for fragile patients in a tertiary referral neurological institute during the COVID-19 pandemic in Milan, Lombardy

Author

Pareyson D., Pantaleoni C., Eleopra R., De Filippis G., Moroni I., Freri E., Zibordi F., Bulgheroni S., Pagliano E., Sarti D., Silvani A., Grazzi L., Tiraboschi P., Didato G., Anghileri E., Bersano A., Valentini L., Piacentini S., Muscio C., Leonardi M., Mariotti C., Eoli M., Nuzzo S., Tagliavini F., Confalonieri P., De Giorgi F., Antozzi C., Ardissone A., Bersano E., Boncoraglio G., Bonvegna S., Botturi A., Brambilla L., Canafoglia L., Caputi L., Caroppo P., Carriero M. R., Casali C., Casazza M., Catania A., Ciaccio C., Cilia R., DallaBella E., D'Amico D., Danti F. R., D'Arrigo S., DeCurtis M., Deleo F., Devigili G., DiFede G., DiGiacomo R., Elia A., Esposito S., Estienne M., Fenu S., Fichera M., Finocchiaro G., Frangiamore R., Gatti M., Gaviani P., Giaccone G., Giani L., Giovagnoli A. R., Andreasi N. G., Granata T., Granocchio E., Lamperti C., Lamperti E., Leone M., Masson R., Nanetti L., Nardocci N., Pastori C., Pisciotta C., Cecchini A. P., Ragona F., Redaelli V., Saletti V., Salsano E., Scelzo E., Solazzi R., Tozzo A., Usai S., Zorzi G., Arnoldi M. T., Foscan M., Marchi A., Pedrinelli I., Zanin R., Gazzola S., Magazu S., Scopelliti M. R., Casalino T., DeSalvatore M., Mazzanti S., Taddei M., Fedeli A., Sattin D., Galimberti L., Zagari R., Bombonato M., Fonte L., Floridia S., Pareyson, D, Pantaleoni, C, Eleopra, R, De Filippis, G, Moroni, I, Freri, E, Zibordi, F, Bulgheroni, S, Pagliano, E, Sarti, D, Silvani, A, Grazzi, L, Tiraboschi, P, Didato, G, Anghileri, E, Bersano, A, Valentini, L, Piacentini, S, Muscio, C, Leonardi, M, Mariotti, C, Eoli, M, Nuzzo, S, Tagliavini, F, Confalonieri, P, De Giorgi, F, Antozzi, C, Ardissone, A, Bersano, E, Boncoraglio, G, Bonvegna, S, Botturi, A, Brambilla, L, Canafoglia, L, Caputi, L, Caroppo, P, Carriero, M, Casali, C, Casazza, M, Catania, A, Ciaccio, C, Cilia, R, Dallabella, E, D'Amico, D, Danti, F, D'Arrigo, S, Decurtis, M, Deleo, F, Devigili, G, Difede, G, Digiacomo, R, Elia, A, Esposito, S, Estienne, M, Fenu, S, Fichera, M, Finocchiaro, G, Frangiamore, R, Gatti, M, Gaviani, P, Giaccone, G, Giani, L, Giovagnoli, A, Andreasi, N, Granata, T, Granocchio, E, Lamperti, C, Lamperti, E, Leone, M, Masson, R, Nanetti, L, Nardocci, N, Pastori, C, Pisciotta, C, Cecchini, A, Ragona, F, Redaelli, V, Saletti, V, Salsano, E, Scelzo, E, Solazzi, R, Tozzo, A, Usai, S, Zorzi, G, Arnoldi, M, Foscan, M, Marchi, A, Pedrinelli, I, Zanin, R, Gazzola, S, Magazu, S, Scopelliti, M, Casalino, T, Desalvatore, M, Mazzanti, S, Taddei, M, Fedeli, A, Sattin, D, Galimberti, L, Zagari, R, Bombonato, M, Fonte, L, and Floridia, S

Subjects
Adult, medicine.medical_specialty, Telemedicine, Neurology, Referral, Dermatology, Telehealth, 03 medical and health sciences, 0302 clinical medicine, Pandemic, medicine, Humans, Outpatient clinic, 030212 general & internal medicine, Medical prescription, Child, Pandemics, Referral and Consultation, SARS-CoV-2, business.industry, Teleneurorehabilitation, COVID-19, General Medicine, medicine.disease, Televisit, Psychiatry and Mental health, Italy, Neuro-telehealth, Neurology (clinical), Neurosurgery, Medical emergency, business, 030217 neurology & neurosurgery
Abstract

Background: Lombardy was severely hit by the COVID-19 pandemic since February 2020 and the Health System underwent rapid reorganization. Outpatient clinics were stopped for non-urgent patients: it became a priority to manage hundreds of fragile neurological patients who suddenly had less reference points. In Italy, before the pandemic, Televisits were neither recognized nor priced. Methods: At the Fondazione IRCCS Istituto Neurologico C. Besta, we reorganized outpatient clinics to deliver Neuro-telemedicine services, including Televisits and Teleneurorehabilitation, since March 2020. A dedicated Working Group prepared the procedure, tested the system, and designed satisfaction questionnaires for adults and children. Results: After a pilot phase, we prepared a procedure for Telemedicine outpatient clinics which was approved by hospital directions. It included prescription, booking, consenting, privacy and data protection, secure connection with patients (Teams Microsoft 365), electronic report preparation and delivery, reporting, and accountability of the services. During the March–September 2020 period, we delivered 3167 Telemedicine services, including 1618 Televisits, to 1694 patients (972 adults, 722 children) with a wide range of chronic neurological disorders. We successfully administered different clinical assessment and scales. Satisfaction among patients and caregivers was very high. Conclusions: During the dramatic emergency, we were able to take care of more than 1600 patients by organizing Neuro-telehealth in a few weeks, lessening the impact of the pandemic on fragile patients with chronic neurological disorders; this strategy is now stably embedded in our care pathways. In Italy, Telehealth is at present recognized and priced and is becoming a stable pillar of the health system.

Published
2021
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8. Vascular remodeling in moyamoya angiopathy: From peripheral blood mononuclear cells to endothelial cells

Author

Tinelli, F, Nava, S, Arioli, F, Bedini, G, Scelzo, E, Lisini, D, Faragò, G, Gioppo, A, Ciceri, E, Acerbi, F, Ferroli, P, Vetrano, I, Esposito, S, Saletti, V, Pantaleoni, C, Zibordi, F, Nardocci, N, Zedde, M, Pezzini, A, Lazzaro, V, Capone, F, Dell'Acqua, M, Vajkoczy, P, Tournier-Lasserve, E, Parati, E, Bersano, A, Gatti, L, Tinelli F., Nava S., Arioli F., Bedini G., Scelzo E., Lisini D., Faragò G., Gioppo A., Ciceri E. F., Acerbi F., Ferroli P., Vetrano I. G., Esposito S., Saletti V., Pantaleoni C., Zibordi F., Nardocci N., Zedde M. L., Pezzini A., Lazzaro V. D., Capone F., Dell'acqua M. L., Vajkoczy P., Tournier-Lasserve E., Parati E. A., Bersano A., Gatti L., Tinelli, F, Nava, S, Arioli, F, Bedini, G, Scelzo, E, Lisini, D, Faragò, G, Gioppo, A, Ciceri, E, Acerbi, F, Ferroli, P, Vetrano, I, Esposito, S, Saletti, V, Pantaleoni, C, Zibordi, F, Nardocci, N, Zedde, M, Pezzini, A, Lazzaro, V, Capone, F, Dell'Acqua, M, Vajkoczy, P, Tournier-Lasserve, E, Parati, E, Bersano, A, Gatti, L, Tinelli F., Nava S., Arioli F., Bedini G., Scelzo E., Lisini D., Faragò G., Gioppo A., Ciceri E. F., Acerbi F., Ferroli P., Vetrano I. G., Esposito S., Saletti V., Pantaleoni C., Zibordi F., Nardocci N., Zedde M. L., Pezzini A., Lazzaro V. D., Capone F., Dell'acqua M. L., Vajkoczy P., Tournier-Lasserve E., Parati E. A., Bersano A., and Gatti L.

Abstract

The pathophysiological mechanisms of Moyamoya angiopathy (MA), which is a rare cerebrovascular condition characterized by recurrent ischemic/hemorrhagic strokes, are still largely unknown. An imbalance of vasculogenic/angiogenic mechanisms has been proposed as one possible disease aspect. Circulating endothelial progenitor cells (cEPCs) have been hypothesized to contribute to vascular remodeling of MA, but it remains unclear whether they might be considered a disease effect or have a role in disease pathogenesis. The aim of the present study was to provide a morphological, phenotypical, and functional characterization of the cEPCs from MA patients to uncover their role in the disease pathophysiology. cEPCs were identified from whole blood as CD45dimCD34+CD133+ mononuclear cells. Morphological, biochemical, and functional assays were performed to characterize cEPCs. A significant reduced level of cEPCs was found in blood samples collected from a homogeneous group of adult (mean age 46.86 ± 11.7; 86.36% females), Caucasian, non-operated MA patients with respect to healthy donors (HD; p = 0.032). Since no difference in cEPC characteristics and functionality was observed between MA patients and HD, a defective recruitment mechanism could be involved in the disease pathophysiology. Collectively, our results suggest that cEPC level more than endothelial progenitor cell (EPC) functionality seems to be a potential marker of MA. The validation of our results on a larger population and the correlation with clinical data as well as the use of more complex cellular model could help our understanding of EPC role in MA pathophysiology.

Published
2020

10. Supplementary material to: Long-term efficacy of T3 analogue Triac in children and adults with MCT8 deficiency: a real-life retrospective cohort study

Author

Geest, F.S. (Ferdy) van, Groeneweg, S. (Stefan), Akker, E.L.T. (Erica) van den, Bacos, I. (Iuliu), Barca, D. (Diana), Berg, S.A.A. (Sjoerd) van den, Bertini, E. (Enrico), Brunner, D. (Doris), Brunetti-Pierri, N. (Nicola), Cappa, M. (Marco), Cappuccio, G. (Gerarda), Chatterjee, K. (Krishna), Chesover, A.D. (Alexander), Christian, P. (Peter), Coutant, R. (Régis), Craiu, D. (Dana), Crock, P. (Patricia), Dewey, C. (Cheyenne), Dica, A. (Alice), Dimitri, P. (Paul), Dubey, R. (Rachana), Enderli, A. (Anina), Fairchild, J. (Jan), Gallichan, J. (Jonathan), Garibaldi, L.R. (Luigi), George, B. (Belinda), Hackenberg, A. (Annette), Heinrich, B. (Bianka), Huynh, Tony (T.), Klosowska, A. (Anna), Lawson-Yuen, A. (Amy), Linder-Lucht, M. (Michaela), Lyons, G. (Greta), Monti Lora, F. (Felipe), Moran, C. (Carla), Müller, K. (Katalin), Paone, L. (Laura), Paul, P.G. (Praveen), Polak, M. (Michel), Porta, F. (Francesco), Reinauer, C. (Christina), Rijke, Y.B. (Yolanda) de, Seckold, R. (Rowen), Seven Menevse, T. (Tuba), Simm, P. (Peter), Simon, A. (Anna), Spada, M. (Marco), Stoupa, A. (Athanasia), Szeifert, L. (Lilla), Tonduti, D. (Davide), Toor, H. (Hans) van, Turan, S. (Serap), Vanderniet, J. (Joel), Waart, M. (Monique) de, Wal, R. (Ronald) van der, Walt, A. (Adri) van der, Wermeskerken, A-M. (Anne-Marie) van, Wierzba, J. (Jolanta), Zibordi, F. (Federica), Zung, A. (Amnon), Peeters, R.P. (Robin), Visser, W.E. (Edward), Geest, F.S. (Ferdy) van, Groeneweg, S. (Stefan), Akker, E.L.T. (Erica) van den, Bacos, I. (Iuliu), Barca, D. (Diana), Berg, S.A.A. (Sjoerd) van den, Bertini, E. (Enrico), Brunner, D. (Doris), Brunetti-Pierri, N. (Nicola), Cappa, M. (Marco), Cappuccio, G. (Gerarda), Chatterjee, K. (Krishna), Chesover, A.D. (Alexander), Christian, P. (Peter), Coutant, R. (Régis), Craiu, D. (Dana), Crock, P. (Patricia), Dewey, C. (Cheyenne), Dica, A. (Alice), Dimitri, P. (Paul), Dubey, R. (Rachana), Enderli, A. (Anina), Fairchild, J. (Jan), Gallichan, J. (Jonathan), Garibaldi, L.R. (Luigi), George, B. (Belinda), Hackenberg, A. (Annette), Heinrich, B. (Bianka), Huynh, Tony (T.), Klosowska, A. (Anna), Lawson-Yuen, A. (Amy), Linder-Lucht, M. (Michaela), Lyons, G. (Greta), Monti Lora, F. (Felipe), Moran, C. (Carla), Müller, K. (Katalin), Paone, L. (Laura), Paul, P.G. (Praveen), Polak, M. (Michel), Porta, F. (Francesco), Reinauer, C. (Christina), Rijke, Y.B. (Yolanda) de, Seckold, R. (Rowen), Seven Menevse, T. (Tuba), Simm, P. (Peter), Simon, A. (Anna), Spada, M. (Marco), Stoupa, A. (Athanasia), Szeifert, L. (Lilla), Tonduti, D. (Davide), Toor, H. (Hans) van, Turan, S. (Serap), Vanderniet, J. (Joel), Waart, M. (Monique) de, Wal, R. (Ronald) van der, Walt, A. (Adri) van der, Wermeskerken, A-M. (Anne-Marie) van, Wierzba, J. (Jolanta), Zibordi, F. (Federica), Zung, A. (Amnon), Peeters, R.P. (Robin), and Visser, W.E. (Edward)

Published
2021

14. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single‐center cohort study

Author

Carecchio, Miryam, Invernizzi, F., Gonzàlez-Latapi, P., Panteghini, C., Zorzi, G., Romito, L., Leuzzi, V., Galosi, S., Reale, C., Zibordi, F., Joseph, A.P., Topf, Maya, Piano, C., Bentivoglio, A.R., Girotti, F., Morana, P., Morana, B., Kurian, M.A., Garavaglia, B., Mencacci, N.E., Lubbe, S.J., and Nardocci, N.

Subjects
bcs
Abstract

Background: Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia. \ud Objective: To define the frequency of KMT2B mutations in a cohort of dystonic patients aged less than 18 years at onset, the associated clinical and radiological phenotype, and the natural history of disease. \ud Methods: Whole-exome sequencing or customized gene panels were used to screen a cohort of sixty-five patients who had previously tested negative for all other known dystonia-associated genes.\ud Results: We identified fourteen patients (21.5%) carrying KMT2B variants, of which one was classified as a Variant of Unknown Significance (VUS). We also identified two additional patients carrying pathogenic mutations in GNAO1 and ATM. Overall, we established a definitive genetic diagnosis in 23% of cases. We observed a spectrum of clinical manifestations in KMT2B variant carriers, ranging from generalized dystonia to short stature or intellectual disability alone, even within the same family. In 78.5% of cases, dystonia involved the lower limbs at onset, with later caudo-cranial generalization. Eight patients underwent pallidal Deep Brain Stimulation with a median decrease of BFMDRS-M score of 38.5% in the long term. We also report four asymptomatic carriers, suggesting that some KMT2B mutations may be associated with incomplete disease penetrance. \ud Conclusions: KMT2B mutations are frequent in childhood-onset dystonia and cause a complex neurodevelopmental syndrome often featuring growth retardation and intellectual disability as additional phenotypic features. A dramatic and long-lasting response to Deep Brain Stimulation is characteristic of DYT-KMT2B dystonia.

Published
2019

15. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., Visser, Wesley J., Groeneweg, S., Geest, F.S. van, Abaci, A., Alcantud, A., Ambegaonkar, G.P., Armour, C.M., Bakhtiani, P., Barca, D., Bertini, E.S., Beijnum, I.M. van, Brunetti-Pierri, N., Bugiani, M., Cappa, M., Cappuccio, G., Castellotti, B., Castiglioni, C., Chatterjee, K., Coo, I.F.M. de, Coutant, R., Craiu, D., Crock, P., DeGoede, C., Demir, K., Dica, A., Dimitri, P., Dolcetta-Capuzzo, A., Dremmen, M.H.G., Dubey, R., Enderli, A., Fairchild, J., Gallichan, J., George, B., Gevers, E.F., Hackenberg, A., Halasz, Z., Heinrich, B., Huynh, T., Klosowska, A., Knaap, M.S. van der, Knoop, M.M. van der, Konrad, D., Koolen, D.A., Krude, H., Lawson-Yuen, A., Lebl, J., Linder-Lucht, M., Lorea, C.F., Lourenco, C.M., Lunsing, R.J., Lyons, G., Malikova, J., Mancilla, E.E., McGowan, A., Mericq, V., Lora, F.M., Moran, C., Muller, K.E., Oliver-Petit, I., Paone, L., Paul, P.G., Polak, M, Porta, F., Poswar, F.O., Reinauer, C., Rozenkova, K., Menevse, T.S., Simm, P., Simon, A., Singh, Y., Spada, M., Spek, J. van der, Stals, M.A.M., Stoupa, A., Subramanian, G.M., Tonduti, D., Turan, S., Uil, C.A. den, Vanderniet, J., Walt, A. van der, Wemeau, J.L., Wierzba, J., Wit, M.Y. de, Wolf, N.I., Wurm, M., Zibordi, F., Zung, A., Zwaveling-Soonawala, N., and Visser, Wesley J.

Abstract

Contains fulltext : 220431.pdf (Publisher’s version ) (Closed access), BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1.5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24.0 months (IQR 12.0-60.0, range 0.0-744.0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35.0 years (95% CI 8.3-61.7). Individuals who did not attain head control by age 1.5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3.46, 95% CI 1.76-8.34; log-rank test p=0.0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

16. Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Author

Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, Visser, WE, Groeneweg, S, van Geest, FS, Abaci, A, Alcantud, A, Ambegaonkar, GP, Armour, CM, Bakhtiani, P, Barca, D, Bertini, ES, van Beynum, IM, Brunetti-Pierri, N, Bugiani, M, Cappa, M, Cappuccio, G, Castellotti, B, Castiglioni, C, Chatterjee, K, de Coo, IFM, Coutant, R, Craiu, D, Crock, P, DeGoede, C, Demir, K, Dica, A, Dimitri, P, Dolcetta-Capuzzo, A, Dremmen, MHG, Dubey, R, Enderli, A, Fairchild, J, Gallichan, J, George, B, Gevers, EF, Hackenberg, A, Halasz, Z, Heinrich, B, Huynh, T, Klosowska, A, van der Knaap, MS, van der Knoop, MM, Konrad, D, Koolen, DA, Krude, H, Lawson-Yuen, A, Lebl, J, Linder-Lucht, M, Lorea, CF, Lourenco, CM, Lunsing, RJ, Lyons, G, Malikova, J, Mancilla, EE, McGowan, A, Mericq, V, Lora, FM, Moran, C, Mueller, KE, Oliver-Petit, I, Paone, L, Paul, PG, Polak, M, Porta, F, Poswar, FO, Reinauer, C, Rozenkova, K, Menevse, TS, Simm, P, Simon, A, Singh, Y, Spada, M, van der Spek, J, Stals, MAM, Stoupa, A, Subramanian, GM, Tonduti, D, Turan, S, den Uil, CA, Vanderniet, J, van der Walt, A, Wemeau, J-L, Wierzba, J, de Wit, M-CY, Wolf, N, Wurm, M, Zibordi, F, Zung, A, Zwaveling-Soonawala, N, and Visser, WE

Abstract

BACKGROUND: Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor disability resulting from cerebral hypothyroidism and chronic peripheral thyrotoxicosis. We sought to systematically assess the phenotypic characteristics and natural history of patients with MCT8 deficiency. METHODS: We did an international, multicentre, cohort study, analysing retrospective data from Jan 1, 2003, to Dec 31, 2019, from patients with MCT8 deficiency followed up in 47 hospitals in 22 countries globally. The key inclusion criterion was genetically confirmed MCT8 deficiency. There were no exclusion criteria. Our primary objective was to analyse the overall survival of patients with MCT8 deficiency and document causes of death. We also compared survival between patients who did or did not attain full head control by age 1·5 years and between patients who were or were not underweight by age 1-3 years (defined as a bodyweight-for-age Z score <-2 SDs or <5th percentile according to WHO definition). Other objectives were to assess neurocognitive function and outcomes, and clinical parameters including anthropometric characteristics, biochemical markers, and neuroimaging findings. FINDINGS: Between Oct 14, 2014, and Jan 17, 2020, we enrolled 151 patients with 73 different MCT8 (SLC16A2) mutations. Median age at diagnosis was 24·0 months (IQR 12·0-60·0, range 0·0-744·0). 32 (21%) of 151 patients died; the main causes of mortality in these patients were pulmonary infection (six [19%]) and sudden death (six [19%]). Median overall survival was 35·0 years (95% CI 8·3-61·7). Individuals who did not attain head control by age 1·5 years had an increased risk of death compared with patients who did attain head control (hazard ratio [HR] 3·46, 95% CI 1·76-8·34; log-rank test p=0·0041). Patients who were underweight during age 1-3 years had an increased risk for death compared with patients who

Published
2020

19. Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

Author

Groeneweg, S., Peeters, R.P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., Walt, A. van der, Coo, I.F.M. de, McGowan, A., Lyons, G., Aarsen, F.K., Barca, D., Beynum, I.M. van, Knoop, M.M. van der, Jansen, J, Manshande, M., Lunsing, R.J., Nowak, S., Uil, C.A. den, Zillikens, M.C., Visser, F.E., Vrijmoeth, P., Wit, M.C. de, Wolf, N.I., Zandstra, A., Ambegaonkar, G., Singh, Y., Rijke, Y.B. de, Medici, M., Bertini, E.S., Depoorter, S., Lebl, J., Cappa, M., Meirleir, L. de, Krude, H., Craiu, D., Zibordi, F., Petit, I., Polak, M, Chatterjee, K., Visser, T.J., Visser, W.E., Groeneweg, S., Peeters, R.P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., Walt, A. van der, Coo, I.F.M. de, McGowan, A., Lyons, G., Aarsen, F.K., Barca, D., Beynum, I.M. van, Knoop, M.M. van der, Jansen, J, Manshande, M., Lunsing, R.J., Nowak, S., Uil, C.A. den, Zillikens, M.C., Visser, F.E., Vrijmoeth, P., Wit, M.C. de, Wolf, N.I., Zandstra, A., Ambegaonkar, G., Singh, Y., Rijke, Y.B. de, Medici, M., Bertini, E.S., Depoorter, S., Lebl, J., Cappa, M., Meirleir, L. de, Krude, H., Craiu, D., Zibordi, F., Petit, I., Polak, M, Chatterjee, K., Visser, T.J., and Visser, W.E.

Abstract

Contains fulltext : 215609.pdf (publisher's version ) (Closed access), BACKGROUND: Deficiency of the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) causes severe intellectual and motor disability and high serum tri-iodothyronine (T3) concentrations (Allan-Herndon-Dudley syndrome). This chronic thyrotoxicosis leads to progressive deterioration in bodyweight, tachycardia, and muscle wasting, predisposing affected individuals to substantial morbidity and mortality. Treatment that safely alleviates peripheral thyrotoxicosis and reverses cerebral hypothyroidism is not yet available. We aimed to investigate the effects of treatment with the T3 analogue Triac (3,3',5-tri-iodothyroacetic acid, or tiratricol), in patients with MCT8 deficiency. METHODS: In this investigator-initiated, multicentre, open-label, single-arm, phase 2, pragmatic trial, we investigated the effectiveness and safety of oral Triac in male paediatric and adult patients with MCT8 deficiency in eight countries in Europe and one site in South Africa. Triac was administered in a predefined escalating dose schedule-after the initial dose of once-daily 350 mug Triac, the daily dose was increased progressively in 350 mug increments, with the goal of attaining serum total T3 concentrations within the target range of 1.4-2.5 nmol/L. We assessed changes in several clinical and biochemical signs of hyperthyroidism between baseline and 12 months of treatment. The prespecified primary endpoint was the change in serum T3 concentrations from baseline to month 12. The co-primary endpoints were changes in concentrations of serum thyroid-stimulating hormone (TSH), free and total thyroxine (T4), and total reverse T3 from baseline to month 12. These analyses were done in patients who received at least one dose of Triac and had at least one post-baseline evaluation of serum throid function. This trial is registered with ClinicalTrials.gov, number NCT02060474. FINDINGS: Between Oct 15, 2014, and June 1, 2017, we screened 50 patients, all of whom were eligible. Of these patient

Published
2019

20. Frequency and phenotypic spectrum of KMT2B dystonia in childhood: A single-center cohort study

Author

Carecchio, M., Invernizzi, F., Gonzalez-Latapi, P., Panteghini, C., Zorzi, Gianni, Romito, Luigi Michele Antonio, Leuzzi, V., Galosi, S., Reale, C., Zibordi, Federica, Joseph, A. P., Topf, M., Piano, Carla, Bentivoglio, Anna Rita, Girotti, Francesco, Morana, P., Morana, B., Kurian, M. A., Garavaglia, B., Mencacci, N. E., Lubbe, S. J., Nardocci, N., Romito L., Zibordi F., Piano C., Bentivoglio A. R. (ORCID:0000-0002-9663-095X), Carecchio, M., Invernizzi, F., Gonzalez-Latapi, P., Panteghini, C., Zorzi, Gianni, Romito, Luigi Michele Antonio, Leuzzi, V., Galosi, S., Reale, C., Zibordi, Federica, Joseph, A. P., Topf, M., Piano, Carla, Bentivoglio, Anna Rita, Girotti, Francesco, Morana, P., Morana, B., Kurian, M. A., Garavaglia, B., Mencacci, N. E., Lubbe, S. J., Nardocci, N., Romito L., Zibordi F., Piano C., and Bentivoglio A. R. (ORCID:0000-0002-9663-095X)

Abstract

Background: Childhood-onset dystonia is often genetically determined. Recently, KMT2B variants have been recognized as an important cause of childhood-onset dystonia. Objective: To define the frequency of KMT2B mutations in a cohort of dystonic patients aged <18 years at onset, the associated clinical and radiological phenotype, and the natural history of disease. Methods: Whole-exome sequencing or customized gene panels were used to screen a cohort of 65 patients who had previously tested negative for all other known dystonia-associated genes. Results: We identified 14 patients (21.5%) carrying KMT2B variants, of which 1 was classified as a variant of unknown significance. We also identified 2 additional patients carrying pathogenic mutations in GNAO1 and ATM. Overall, we established a definitive genetic diagnosis in 23% of cases. We observed a spectrum of clinical manifestations in KMT2B variant carriers, ranging from generalized dystonia to short stature or intellectual disability alone, even within the same family. In 78.5% of cases, dystonia involved the lower limbs at onset, with later caudocranial generalization. Eight patients underwent pallidal DBS with a median decrease of Burke-Fahn-Marsden Dystonia Rating Scale-Motor score of 38.5% in the long term. We also report on 4 asymptomatic carriers, suggesting that some KMT2B mutations may be associated with incomplete disease penetrance. Conclusions: KMT2B mutations are frequent in childhood-onset dystonia and cause a complex neurodevelopmental syndrome, often featuring growth retardation and intellectual disability as additional phenotypic features. A dramatic and long-lasting response to DBS is characteristic of DYT-KMT2B dystonia. © 2019 International Parkinson and Movement Disorder Society.

Published
2019

22. The noncoding RNA AK127244 in 2p16.3 locus: A new susceptibility region for neuropsychiatric disorders

Author

Rizzo, A, Alfei, E, Zibordi, F, Saletti, V, Zorzi, G, Freri, E, Estienne, M, Girgenti, V, D'Arrigo, S, Esposito, S, Buldrini, B, Moroni, I, Milani, D, Granata, T, Ardissone, A, Eoli, M, Molteni, B, Bigoni, S, Pantaleoni, C, Nardocci, N, Sciacca, F, Rizzo, Ambra, Alfei, Enrico, Zibordi, Federica, Saletti, Veronica, Zorzi, Giovanna, Freri, Elena, Estienne, Margherita, Girgenti, Vita, D'Arrigo, Stefano, Esposito, Silvia, Buldrini, Barbara, Moroni, Isabella, Milani, Donatella, Granata, Tiziana, Ardissone, Anna, Eoli, Marica, Molteni, Bruna, Bigoni, Stefania, Pantaleoni, Chiara, Nardocci, Nardo, Sciacca, Francesca Luisa, Rizzo, A, Alfei, E, Zibordi, F, Saletti, V, Zorzi, G, Freri, E, Estienne, M, Girgenti, V, D'Arrigo, S, Esposito, S, Buldrini, B, Moroni, I, Milani, D, Granata, T, Ardissone, A, Eoli, M, Molteni, B, Bigoni, S, Pantaleoni, C, Nardocci, N, Sciacca, F, Rizzo, Ambra, Alfei, Enrico, Zibordi, Federica, Saletti, Veronica, Zorzi, Giovanna, Freri, Elena, Estienne, Margherita, Girgenti, Vita, D'Arrigo, Stefano, Esposito, Silvia, Buldrini, Barbara, Moroni, Isabella, Milani, Donatella, Granata, Tiziana, Ardissone, Anna, Eoli, Marica, Molteni, Bruna, Bigoni, Stefania, Pantaleoni, Chiara, Nardocci, Nardo, and Sciacca, Francesca Luisa

Abstract

The presence of redundant copy number variants (CNVs) in groups of patients with neurological diseases suggests that these variants could have pathogenic effect. We have collected array comparative genomic hybridization (CGH) data of about 2,500 patients affected by neurocognitive disorders and we observed that CNVs in 2p16.3 locus were as frequent as those in 15q11.2, being both the most frequent unbalances in our cohort of patients. Focusing to 2p16.3 region, unbalances involving NRXN1 coding region have been already associated with neuropsychiatric disorders, although with incomplete penetrance, but little is known about CNVs located proximal to the gene, in the long noncoding RNA AK127244. We found that, in our cohort of patients with neuropsychiatric disorders, the frequency of CNVs involving AK127244 was comparable to that of NRXN1 gene. Patients carrying 2p16.3 unbalances shared some common clinical characteristics regardless NRXN1 and AK127244 CNVs localization, suggesting that the AK127244 long noncoding RNA could be involved in neurocognitive disease with the same effect of NRXN1 unbalances. AK127244 as well as NRXN1 unbalances seem to have a particular influence on language development, behavior or mood, according with the topographic correlation between NRXN1 expression and prefrontal cortex functions

Published
2018

23. ADCY5-related movement disorders: Frequency, disease course and phenotypic variability in a cohort of paediatric patients

Author

Carecchio, M. Mencacci, N.E. Iodice, A. Pons, R. Panteghini, C. Zorzi, G. Zibordi, F. Bonakis, A. Dinopoulos, A. Jankovic, J. Stefanis, L. Bhatia, K.P. Monti, V. R'Bibo, L. Veneziano, L. Garavaglia, B. Fusco, C. Wood, N. Stamelou, M. Nardocci, N.

Abstract

Introduction ADCY5 mutations have been recently identified as an important cause of early-onset hyperkinetic movement disorders. The phenotypic spectrum associated with mutations in this gene is expanding. However, the ADCY5 mutational frequency in cohorts of paediatric patients with hyperkinetic movement disorders has not been evaluated. Methods We performed a screening of the entire ADCY5 coding sequence in 44 unrelated subjects with genetically undiagnosed childhood-onset hyperkinetic movement disorders, featuring chorea alone or in combination with myoclonus and dystonia. All patients had normal CSF analysis and brain imaging and were regularly followed-up in tertiary centers for paediatric movement disorders. Results We identified five unrelated subjects with ADCY5 mutations (11% of the cohort). Three carried the p. R418W mutation, one the p. R418Q and one the p. R418G mutation. Mutations arose de novo in four cases, while one patient inherited the mutation from his similarly affected father. All patients had delayed motor and/or language milestones with or without axial hypotonia and showed generalized chorea and dystonia, with prominent myoclonic jerks in one case. Episodic exacerbations of the baseline movement disorder were observed in most cases, being the first disease manifestation in two patients. The disease course was variable, from stability to spontaneous improvement during adolescence. Conclusion Mutations in ADCY5 are responsible for a hyperkinetic movement disorder that can be preceded by episodic attacks before the movement disorder becomes persistent and is frequently misdiagnosed as dyskinetic cerebral palsy. A residual degree of neck hypotonia and a myopathy-like facial appearance are frequently observed in patients with ADCY5 mutations. © 2017 The Authors

Published
2017

24. Identification of obstructive sites and patterns in obstructive sleep apnoea syndrome by sleep endoscopy in 614 patients

Author

SALAMANCA, F., COSTANTINI, F., BIANCHI, A., AMAINA, T., COLOMBO, E., and ZIBORDI, F.

Subjects
Adult, Aged, 80 and over, Male, Sleep Apnea, Obstructive, Oral device, Adolescent, Sleep endoscopy, Mandibular pull-up manoeuvre, Endoscopy, Mandible, Middle Aged, Young Adult, Obstructive sleep apnoea syndrome, Humans, Female, Sleep Disorders, Aged
Abstract

The aim of this study was to analyze and report sites and patterns of obstruction observed during sleep endoscopy in a large group of patients and suggest consequent therapeutic prescriptions. 614 consecutive patients who approached the Centre for Diagnosis and Treatment of Respiratory Sleep Disorders underwent sleep endoscopy. We used propofol to induce sleep, monitoring the value of bispectral index to evaluate the depth of sedation. For each patient, we recorded obstruction sites,obstruction patterns and the effects of the mandibular pull-up manoeuvre on both obstruction and snoring. We ascertained that, in almost all patients, the noise of snoring was generated at the oropharyngeal level. The obstruction at the oropharyngeal level, either in isolation or in combination with other structures, is far more common. The mandibular pull-up manoeuvre was effective in reducing or resolving the obstruction in a large number of patients, even though their AHI values were high. For those patients having an AHI over 15, we point out the various therapeutic indications gained from the sleep endoscopy examinations. Drug-induced (propofol) sleep endoscopy can be considered be a safe procedure, easily practicable, valid and reliable; we therefore consider it a fundamental clinical investigation that can be essential when choosing treatment.Abbiamo sottoposto a Sleep Endoscopy 614 pazienti consecutivi che si sono rivolti al nostro Centro per la Diagnosi e Cura dei Disturbi Repiratori del Sonno, allo scopo di rilevare e riportare i siti ed i pattern di ostruzione osservati nel corso di questo esame in un ampio gruppo di pazienti e di riferire le relative prescrizioni terapeutiche. È stato utilizzato il propofol per indurre il sonno, controllando il valore di BIS (Bispectral Index) per valutare la profondità della sedazione; per ogni paziente sono stati riportati i siti ed i pattern di ostruzione, oltre ai risultati della manovra di avanzamento mandibolare, sia sull'ostruzione che sul russamento. Abbiamo rilevato che in quasi tutti i pazienti il rumore del russamento era generato a livello orofaringeo. Anche l'ostruzione a livello orofaringeo, sia isolata che associata ad altre strutture è risultata di gran lunga la più comune. La manovra di avanzamento mandibolare è risultata efficace e quindi in grado di ridurre o risolvere l'ostruzione in un gran numero di pazienti, anche tra quelli con valori di AHI elevati. Per i soggetti con indice di AHI superiore a 15 vengono anche riportate le varie indicazioni terapeutiche ricavate dall'esame di Sleep Endoscopy. La Sleep Endoscopy eseguita con propofol si è dimostrata una procedura sicura, di facile realizzazione, in grado di fornire risultati validi ed affidabili; nella nostra opinione al momento si tratta di un elemento essenziale nella scelta del trattamento.

Published
2013

25. Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations

Author

Leoni, V, Strittmatter, L, Zorzi, G, Zibordi, F, Dusi, S, Garavaglia, B, Venco, P, Caccia, C, Souza, A, Deik, A, Clish, C, Rimoldi, M, Ciusani, E, Bertini, E, Nardocci N, Mootha, V, Tiranti, V, Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Mootha VK, Tiranti V, Leoni, V, Strittmatter, L, Zorzi, G, Zibordi, F, Dusi, S, Garavaglia, B, Venco, P, Caccia, C, Souza, A, Deik, A, Clish, C, Rimoldi, M, Ciusani, E, Bertini, E, Nardocci N, Mootha, V, Tiranti, V, Leoni V, Strittmatter L, Zorzi G, Zibordi F, Dusi S, Garavaglia B, Venco P, Caccia C, Souza AL, Deik A, Clish CB, Rimoldi M, Ciusani E, Bertini E, Mootha VK, and Tiranti V

Abstract

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare, inborn error of metabolism characterized by iron accumulation in the basal ganglia and by the presence of dystonia, dysarthria, and retinal degeneration. Mutations in pantothenate kinase 2 (PANK2), the rate-limiting enzyme in mitochondrial coenzyme A biosynthesis, represent the most common genetic cause of this disorder. How mutations in this core metabolic enzyme give rise to such a broad clinical spectrum of pathology remains a mystery. To systematically explore its pathogenesis, we performed global metabolic profiling on plasma from a cohort of 14 genetically defined patients and 18 controls. Notably, lactate is elevated in PKAN patients, suggesting dysfunctional mitochondrial metabolism. As predicted, but never previously reported, pantothenate levels are higher in patients with premature stop mutations in PANK2. Global metabolic profiling and follow-up studies in patient-derived fibroblasts also reveal defects in bile acid conjugation and lipid metabolism, pathways that require coenzyme A. These findings raise a novel therapeutic hypothesis, namely, that dietary fats and bile acid supplements may hold potential as disease-modifying interventions. Our study illustrates the value of metabolic profiling as a tool for systematically exploring the biochemical basis of inherited metabolic diseases.

Published
2012

26. The relationship between group A streptococcal infections and Tourette syndrome: a study on a large service-based cohort

Author

Martino D., Chiarotti F., Buttiglione M., Cardona F., Creti R., Nardocci N., Orefici G., Veneselli E., Rizzo R., Italian Tourette Syndrome Study Group Collaborators: Calì P. V., Gulisano M., Defazio G., Leante R., Livrea P., Trojano M., Vitiello F., De Grandis E., Neri V., RIZZO, GIOVANNI, Zibordi F., PARCHI, PIERO, Martino D., Chiarotti F., Buttiglione M., Cardona F., Creti R., Nardocci N., Orefici G., Veneselli E., Rizzo R., Italian Tourette Syndrome Study Group Collaborators: Calì P.V., Gulisano M., Defazio G., Leante R., Livrea P., Trojano M., Vitiello F., De Grandis E., Neri V., Parchi P., Rizzo G., and Zibordi F.

Subjects
BASAL GANGLIA, AUTOIMMUNE, NEURONAL AUTOANTIBODIES, MOVEMENT DISORDERS
Abstract

AIM: To evaluate the relationship between diagnosis and clinical course of Tourette syndrome and group A Streptococcus (GAS). METHOD: GAS infections, anti-streptococcal, and anti-basal ganglia antibodies (ABGA) were compared between 168 patients (136 males, 32 females) with Tourette syndrome; (median [range] age [25th-75th centile] 10y [8-11y]); median Tourette syndrome duration (25th-75th centile), 3y (1y 3mo-5y 9mo) and a comparison group of 177 patients (117 males, 60 females) with epileptic or sleep disorders median age [25th-75th centile], 10y [8y-1y 6mo]). One hundred and forty-four patients with Tourette syndrome were followed up at 3-month intervals; exacerbations of tics, obsessive-compulsive symptoms, and other psychiatric comorbidities were defined by a bootstrap procedure. The effect of new GAS infections and identification of new ABGA upon risk of exacerbation was assessed using logistic regression analysis. RESULTS: Cross-sectionally, patients with Tourette syndrome exhibited a higher frequency of GAS infection (8% vs 2%; p=0.009), higher anti-streptolysin O (ASO) titres (246 [108-432] vs 125 [53-269]; p0.05). INTERPRETATION: Patients with Tourette syndrome might be more prone to GAS infections and develop stronger antibody responses to GAS, probably as a result of underlying immune dysregulation. New GAS infections are unlikely to exert, years after their onset, a major effect upon the severity of neuropsychiatric symptoms.

Published
2011

30. Videoendoscopic adenoidectomy with microdebrider

Author

Costantini, F, Salamanca, F, Amaina, T, and Zibordi, F

Subjects
Rhinology
Abstract

After evaluating approaches proposed, over the last few years, by several Authors, to make the procedure of adenoidectomy safer and more accurate, we have developed a new procedure based on the combined use of a rigid 70° endoscope with a video attachment and a microdebrider, both introduced through the oral cavity. This procedure offers several advantages: an improved field of vision, continuous suction of blood, and extreme precision in removing the adenoid tissue. Compared with current practices which employ the adenotome or curette, it is possible with our approach to remove adenoid tissue in the most important centres: the choanal and tubaric regions. The validity and safety of this videoendoscopic adenoidectomy with microdebrider has been demonstrated in 201 patients.

Published
2008

31. Comparison of spatial behaviour of translocated and non-translocated brown bears in Europe

Author

Rauer, Georg, Huber, Djuro, Kazensky, Petra, Knauer, Felix, Mustoni, Andrea, Palazon, S. Quenette PY6, Zibordi F, Dalpiaz, Davide, and Genovesi, Piero

Subjects
spatial behaviour, translocation, brown bear, Europe
Abstract

In the framework of three brown bear conservation programs in European Union (LIFE projects), 16 adult and subadult brown bears were successively translocated from Slovenia and Croatia to Austria, France and Italy. Two females and 1 male were released in Austria between 1989-1993 and in France between 1996-1997 and 3 males and 7 females released in Italy between 1999-2002. During this period 34 males and 14 females were captured both in Slovenia and Croatia and radiotracked in the framework of monitoring studies of brown bear populations in these two countries. The aim of this study is twofold i) describe the spatial behavior of bears released in a new environment and compare it with non-translocated brown bears from source population ; ii) give critical biological data for managers planning future translocations. Analysis of spatial behaviour was done by calculating serial and annual home ranges, comparing home ranges between successive years and by calculating straight line distances between successive daily radio locations. On average translocated bears exhibited a higher mobility and a larger home range in the year of their translocation than non-translocated bears of the same age and sex class. For translocated bears the release point did not necessarily become a central point in the home range as several bears never revisited the area. Our results show the possible variation in the spatial behavior managers have to expect when translocating bears. Further analysis are needed to determine how much of this variation can be explained by differences in habitat distribution and quality, bear density or individual traits of translocated bears.

Published
2005

32. La reintroduzione dell'orso bruno (Ursus arctos) sulle Alpi Centrali: validazione del modello di valutazione ambientale

Author

Mustoni, A., Carlini, E., Chiarenzi, B., Chiozzini, S., Lattuada, E., Perrotta, I., Davini, S., Zibordi, F., Nave, L., Martinoli, Adriano, and Preatoni, Damiano

Abstract

Nel 1996 il Parco Naturale Adamello Brenta (Trentino, Italia), in collaborazione con la Provincia Autonoma di Trento (PAT) e l'Istituto Nazionale per la Fauna Selvatica (INFS), ha avviato il Progetto Life Ursus, il cui obiettivo ultimo è ristabilire una popolazione vitale di orsi sulle Alpi Centrali. Il Progetto è stato finanziato in parte dall'Unione Europea attraverso lo strumento economico "Life Natura". Il Parco (PNAB) nel 1996 ha incaricato l'INFS di realizzare uno Studio di Fattibilità che si è concentrato su un'area di 6.495 Km². Le analisi territoriali hanno permesso di valutare le caratteristiche ambientali dell'area di studio per stabilirne l'idoneità ad ospitare una popolazione di orsi. Il Modello di Valutazione Ambientale (MVA) si è sviluppato considerando sia variabili "ambientali" sia "antropiche". Grazie all'utilizzo di un Sistema Informativo Territoriale (GIS) è stata realizzata una carta finale nella quale sono state individuate quattro distinte aree principali: 1) aree idonee alla presenza dell'orso; 2) aree scarsamente vocate; 3) aree non idonee; 4) aree considerate a priori ambienti non utilizzabili dalla specie (rocce, zone a vegetazione rada e ghiacciai). I risultati hanno indicato che, in tutto il territorio considerato, l'area di tipo 1) ha un estensione di 1.705 Km², mentre sussistono 2.245 Km² ricadenti in aree di tipo 2). Il lavoro presentato mette a confronto i risultati emersi dal MVA con l'effettivo utilizzo dell'area di studio da parte degli orsi reintrodotti. Per far ciò sono stati elaborati i dati derivanti dal radio-tracking: sono state registrate 5.009 localizzazioni (fix), distribuite tra maggio 1999 e dicembre 2001, riferite a tutti e 7 i soggetti rilasciati. Il territorio effettivamente utilizzato dagli orsi è stato valutato mediante 3 diversi livelli di analisi: i) singole localizzazioni; ii) distinzione delle localizzazioni sulla base della loro accuratezza e creazione di un buffer circolare corrispondente; iii) point density. Il confronto con il MVA ha mostrato che: secondo l'analisi di livello i), il 55% dei fix ricade nelle aree di tipo 1), il 6,76% in quelle di tipo 3), il 32,36% nella tipologia 2) e il 5,5% nella 4); dall'indagine ii), il 55,2% della superficie validabile presenta un errore di classificazione, ma per il restante 44,8% la correttezza delle predizioni è stata verificata; dal calcolo della point density (iii), nel 49,44% dei casi il MVA ha compiuto una valutazione errata, ma nel 50,56% il Modello è risultato esatto. Per alcune tipologie di habitat, corrispondenti alle categorie di uso del suolo del Corine- land cover (carta di uso del suolo della Unione Europea, è stata effettuata una stima della disponibilità all'interno dell'area di studio ed è stato valutato l'effettivo utilizzo delle diverse categorie ambientali rispetto alla loro disponibilità. L'orso ha manifestato di selezionare positivamente boschi di latifoglie, boschi misti, nonché aree cespugliate, pascoli e praterie, tre categorie definite di "minore qualità ambientale" nel MVA.

Published
2003

33. Beta-carotene supplementation in patients radically treated for stage I-II head and neck cancer: results of a randomized trial

Author

Toma, S., Bonelli, L., Sartoris, A., Mira, E., Antonelli, A., Beatrice, F., Giordano, C., Marco Benazzo, Caroggio, A., Cavalot, Al, Gandolfo, S., Garozzo, A., Margarino, G., Schenone, G., Spadini, N., Zibordi, F., Balzarini, F., Serafini, I., Miani, P., and Cortesina, G.

Subjects
Adult, Male, Time Factors, Middle Aged, beta Carotene, Antioxidants, Disease-Free Survival, Treatment Outcome, Cardiovascular Diseases, Head and Neck Neoplasms, Dietary Supplements, Carcinoma, Squamous Cell, Humans, Female, Aged
Abstract

This study was aimed at evaluating the efficacy of beta-carotene in improving survival (S) and in disease-free survival (DFS) and reducing the incidence of second primary tumors (SPT) in patients with a radically treated stage I-II squamous head and neck tumors. Eligible patients were randomly allocated to receive beta-carotene (n=104) or no treatment (n=110). beta-carotene was administered at the dose of 75 mg/day for 3-month cycles within one month intercycle intervals for a 3-year period. The 3-year compliance to the beta-carotene was 68.7%. Only eight patients reported drug-related toxicity (7.8%). The median follow-up of all patients was 59 months. The median follow-up was 61 months (range 1-116 months) in the beta-carotene and 58 months (1-123 months) in the control group. The 10-year DFS was 75.7% for the patients in the beta-carotene and 74.3% for those in the control group (P=0.56). The 10-year S was 85.9% in the beta-carotene group and 80.9% in the control group (P=0.20). beta-carotene supplementation had no significant effect on the incidence of second primary tumors (RR=0.99; 95% C.I. 0.28-3.44). A statistically non-significant 40% reduction in the risk of death among subjects assigned to the beta-carotene compared to the controls was observed (RR=0.60; 95% C.I. 0.26-1.38). No increase in the death from cardiovascular diseases was observed among patients treated with beta-carotene. Our results might support the hypothesis that an adequate beta-carotene treatment could be potentially associated with a decreased risk of death in these patients.

Published
2003

38. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome

Author

Marelli, C, Canafoglia, L, Zibordi, F, Ciano, C, Visani, E, Zorzi, G, Garavaglia, B, Barzaghi, C, Albanese, Alberto, Soliveri, P, Leone, M, Panzica, F, Scaioli, V, Pincherle, A, Nardocci, N, Franceschetti, Silvana, Albanese, Alberto (ORCID:0000-0002-5864-0006), Marelli, C, Canafoglia, L, Zibordi, F, Ciano, C, Visani, E, Zorzi, G, Garavaglia, B, Barzaghi, C, Albanese, Alberto, Soliveri, P, Leone, M, Panzica, F, Scaioli, V, Pincherle, A, Nardocci, N, Franceschetti, Silvana, and Albanese, Alberto (ORCID:0000-0002-5864-0006)

Abstract

Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo-rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a "startle-like" muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas.

Published
2008

46. Surgery versus primary chemotherapy plus surgery in squamous cell carcinoma of the oral cavity: Preliminary report of a randomized study

Author

Grandi, C, primary, Molinari, R, additional, Bonadonna, G, additional, Licitra, L, additional, Cavina, R, additional, Guzzo, M, additional, Podrecca, S, additional, Gelosa, G, additional, Negri, A, additional, Colombo, E, additional, Zibordi, F, additional, Demicheli, R, additional, and Gardani, G, additional

Published
1993
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47. A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome.

Author

Marelli C, Canafoglia L, Zibordi F, Ciano C, Visani E, Zorzi G, Garavaglia B, Barzaghi C, Albanese A, Soliveri P, Leone M, Panzica F, Scaioli V, Pincherle A, Nardocci N, and Franceschetti S

Abstract

Mutations in the epsilon-sarcoglycan (SGCE) gene have been associated with DYT11 myoclonus-dystonia syndrome (MDS). The aim of this study was to characterize myoclonus in 9 patients with DYT11-MDS presenting with predominant myoclonus and mild dystonia by means of neurophysiological techniques. Variously severe multifocal myoclonus occurred in all of the patients, and included short (mean 89.1 +/- 13.3 milliseconds) electromyographic bursts without any electroencephalographic correlate, sometimes presenting a pseudo-rhythmic course. Massive jerks could be evoked by sudden stimuli in 5 patients, showing a 'startle-like' muscle spreading and latencies consistent with a brainstem origin. Somatosensory evoked potentials and long-loop reflexes were normal, as was silent period and long-term intracortical inhibition evaluated by means of transcranial magnetic stimulation; however, short-term intracortical inhibition revealed subtle impairment, and event-related synchronization (ERS) in the beta band was delayed. Blink reflex recovery was strongly enhanced. Myoclonus in DYT11-MDS seems to be generated at subcortical level, and possibly involves basal ganglia and brainstem circuitries. Cortical impairment may depend from subcortical dysfunction, but it can also have a role in influencing the myoclonic presentation. The wide distribution of the defective SCGE in DYT11-MDS may justify the involvement of different brain areas. [ABSTRACT FROM AUTHOR]

Published
2008
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49. Pseudotumor Cerebri dell'età infantile e adolescenziale: 10 anni di esperienza

Author

Erbetta, A., Estienne, M., Zibordi, F., Balestrini, MR, Chiapparini, L., Ciceri, E., D'Incerti, L., and Savoiardo, M.

Abstract

In a retrospective fashion we reviewed the clinical aspects and the neuroradiological findings in 23 young patients (mean age at the onset 9.2 year-old) affected by Pseudotumor Cerebri, examinated at our Institution in the last ten years. The syndrome is characterized by high CSF pressure value without hydrocephalus, expansive lesions or biochemical modifications of the liquor.The aim of this study is to evaluate the importance of the neuroradiological examinations in the diagnosis of Pseudotumor Cerebri.

Published
2003
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50. Treatment of Cancer of the Base of the Tongue and Glosso-Epiglottic Region: A Multicenter Italian Survey

Author

Grandi, Cesare, Guzzo, Marco, Cavina, Raffaele, Gardani, Gianstefano, Tana, Silvia, Licitra, Lisa, Rossi, Nicoletta, Barbaccia, Carmelo, Mingardo, Massimo, Fallahdar, Davud, Bruno, Paolo, Molinari, Roberto, Barzan, L., Politi, D., Olmi, P., Fallai, C., Gabriele, P., Bussi, L., Cortesina, G., Succo, G., Sartoris, G., Armaroli, L., Cefaro, G. Ausili, Gelosa, G., Grandini, M., Singarelli, S., Fracchia, P., Roselli, R., Spriano, G., Cosentino, D., Spinelli, R., Pia, F., Dosdegani, R., Squadrelli, M., Sarti, E., Bonetti, B., Bertoni, F., Oldini, C., Malusardi, G., Monica, B., Rampello, G., Zibordi, F., Banci, F., Maronchelli, M., and Molinari, R.

Abstract

Background The current treatment options for cancer of the base of the tongue and glosso-epiglottic region are surgery, radiotherapy, or a combination of both modalities. Comparisons between different modalities are not common in the literature, and a real standard of treatment has not yet been established. The purpose of our study was to evaluate the results of treatment in a large series of patients from 18 Italian institutions in relation to the main treatment adopted.Methods The present study is a retrospective survey. The series was divided into a combined surgery group and a radiotherapy group. The Kaplan-Meier method and the log-rank test were used for survival calculations and comparisons.Results Eight hundred patients were registered (25.7% stage III and 62% stage IV), 336 in the surgery and 372 in the radiotherapy group. Conventional fractionation was adopted in almost all cases. The five-year overall and disease free survival of the whole series was 32% and 38%, respectively. Survival was slightly better for patients with tumors of the glosso-epiglottic region than for those with a tumor of the base of the tongue. Five-year disease-free survival was 55% for patients treated with surgery +/- radiochemotherapy and 26% for those submitted to radiotherapy alone or in combination with chemotherapy. As far as the total dose and the treatment duration were concerned, only 26% of the patients of the radiotherapy group met the established criteria of adequacy, but in patients with adequate radiation the control rate was better only for small tumors (T1-T2).Conclusions The results in patients treated with surgery +/-postoperative radiotherapy were similar to or better than those reported in the best series in the literature. By contrast, the survival rate of irradiated patients was lower than those reported by other centers.

Published
2000
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