8 results on '"Santecchia L"'
Search Results
2. The relationship between deficit in digit span and genotype in nonsense mutation Duchenne muscular dystrophy
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Thangarajh, M, Elfring, GL, Trifillis, P, McIntosh, J, Peitz, SW, Ryan, MM, Kornberg, AJ, RodriguezCasero, V, Wray, A, Jones, KJ, North, K, Goemans, N, Buyse, GM, Campbell, C, Mah, J, Sarnat, H, Selby, K, Voit, T, Doppler, V, De Castro, D, Chabrol, B, Levy, N, Halbert, C, Pereon, Y, Magot, A, Perrier, J, Mahe, JY, Schara, U, Lutz, S, Busse, M, Della Marina, A, Kirschner, J, Stanescu, A, Pohl, A, RensingZimmerman, C, Bertini, E, D'Amico, A, Kofler, A, Carlesi, A, Bonetti, AM, Santecchia, L, Emma, F, Bergami, G, Mercuri, EM, Vasco, G, Bianco, F, Mazzone, ES, De Sanctis, R, Alfieri, P, Pane, M, Messina, S, Comi, GP, Magri, F, Lucchini, V, Corti, SP, Moggio, MG, Sciacco, M, Bresolin, N, Prelle, AC, Magri, R, Virgilio, R, Lamperti, C, Nevo, Y, DorWollman, T, Vilchez, J, Muelas, N, Sevilla, T, Smeyers, P, de la Osa, A, Colomer, J, Ortez, CI, Nascimento, A, Febrer, A, Medina, J, Tulinus, M, Thorarinsdottir, B, Darin, N, Sejersen, T, Hovmoller, M, Bushby, K, Straub, V, Guglieri, M, Sarkozy, A, Willis, T, Eagle, M, Mayhew, A, Muntoni, F, Cirak, S, Manzur, AY, Robb, SA, Kinali, M, Quinlivan, RCM, Smith, MR, Pandey, R, Wong, B, Collins, J, Finkel, R, Bonnemann, C, Yang, M, Foley, AR, Yum, S, Sampson, J, Bromberg, M, Swoboda, K, Day, J, Karachunski, P, Mathews, K, Bonthius, D, Laubenthal, KS, Darras, B, Kang, P, Parson, J, Barohn, R, Dasouki, M, Anderson, H, Burns, J, Dimachkie, M, Pasnoor, M, Wang, YX, Ciafaloni, E, Heatwole, C, Connolly, A, Pestronk, A, Al-Lozi, M, Lopate, G, Golumbek, P, Sommerville, B, Wang, L, Wojcicka-Mitchell, A, Godbey, A, Harms, M, Varadachary, A, Iyadurai, S, Rojas, L, Iannacone, S, Khonghatithum, C, Sproule, D, De Vivo, D, Constantinescu, A, McDonald, C, Han, J, Ben Renfroe, Russman, B, Sussman, M, BurnsWechsler, S, Juel, V, Hobson-Webb, L, Smith, E, Ataluren Phase 2b Study Grp, Schara, Ulrike (Beitragende*r), and Marina, Adela Della (Beitragende*r)
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Male ,0301 basic medicine ,Adolescent ,Duchenne muscular dystrophy ,Nonsense mutation ,Medizin ,Neuropsychological Tests ,030105 genetics & heredity ,Article ,Young Adult ,03 medical and health sciences ,Exon ,Settore MED/39 - NEUROPSICHIATRIA INFANTILE ,0302 clinical medicine ,Genotype ,Memory span ,medicine ,Humans ,Child ,Genetics ,biology ,Promoter ,Duchenne ,medicine.disease ,Muscular Dystrophy, Duchenne ,Cross-Sectional Studies ,Memory, Short-Term ,Codon, Nonsense ,Child, Preschool ,Mutation (genetic algorithm) ,biology.protein ,Neurology (clinical) ,Dystrophin ,030217 neurology & neurosurgery - Abstract
ObjectiveTo evaluate the relationship between deficit in digit span and genotype in nonsense mutation (nm) Duchenne muscular dystrophy (DMD) (nmDMD).MethodsWe investigated the relationship between normalized digit-span forward (d-sf) and digit-span backward (d-sb) scores to the location of nmDMD mutations in 169 participants ≥5 to ≤20 years who participated in a phase 2b clinical trial. Because alternative promoters are found upstream of DMD exons 30, 45, and 63, we correlated d-sf and d-sb to the specific nmDMD mutation location.ResultsParticipants with nm downstream of exon 30, downstream of exon 45, and downstream of exon 63 had significantly lower normalized d-sf scores (p < 0.0001). Participants with nm downstream of exon 45 in addition had significantly lower normalized d-sb score (p < 0.04). There was no significant difference in the normalized d-sb score in participants with mutations upstream or downstream of DMD exon 30 or upstream or downstream of DMD exon 63.ConclusionOur data provide evidence that specific cognitive deficits correlate to genotype in individuals with nmDMD, highlighting the critical role of brain-specific dystrophin isoforms in the neurobiological manifestations of this disease.Clinicaltrials.gov identifierNCT02090959.
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- 2018
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3. Malignant tumors of the orbital region. Analysis of cases examined from 1986 to 1995
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Seccia, Antonio, Salgarello, Marzia, Bracaglia, Roberto, Sturla, Marcella, Santecchia, L, Loreti, A, Farallo, Eugenio Giuseppe, Salgarello, Marzia (ORCID:0000-0003-4296-4214), Sturla, Marcella (ORCID:0000-0003-0288-3460), Seccia, Antonio, Salgarello, Marzia, Bracaglia, Roberto, Sturla, Marcella, Santecchia, L, Loreti, A, Farallo, Eugenio Giuseppe, Salgarello, Marzia (ORCID:0000-0003-4296-4214), and Sturla, Marcella (ORCID:0000-0003-0288-3460)
- Abstract
To present a retrospective study of 154 orbital tumors examined from 1986 to 1995.
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- 1997
4. The Use of ABILHAND-Kids in Children with Unilateral Congenital Below-Elbow Deficiencies and Acquired Amputation: An Italian Cross-Sectional Study.
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Della Bella G, Santecchia L, Luttazi P, Mariani G, Pochiero L, Lacopo A, Delia C, and Tofani M
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Congenital or acquired hand differences, including unilateral below-elbow deficiencies, present complex challenges in pediatric rehabilitation. Surgical management and prosthetic provision represent a big challenge to find a good balance for guaranteeing optimal hand function. There is no specific assessment tool for measuring these aspects in the Italian context. The present study investigates the psychometric properties of the ABILHAND-Kids in children with congenital unilateral below-elbow deficiencies and acquired amputation of the upper limb. We measure internal consistency using Cronbach coefficient alpha and the intraclass correlation coefficient (ICC) for measuring test-retest reliability. Differences in hand function in both children with acquired or congenital diseases were also investigated. Participants to the study were 107 (49 F and 58 M) children, with a mean (SD) age of 8.88 (4.25). For test retest reliability, conducted on a sub-sample of 58 children, the ICC was 0.92, while for internal consistency, the Cronbach coefficient alpha was 0.90. We did not find statistically significant differences in scoring ( p = 0.33) in the use (mean 29.25 SD 6.58) or non-use of a prosthetic device (mean 30.74 SD 7.43), while statistically significant differences were found in hand function ( p < 0.01) for children who had a congenital impairment (mean 31.87 SD 6.49) and children who had an acquired amputation (mean 27.77 SD 6.60). In conclusion, the ABILHAND-Kids showed good internal consistency and reliability and can capture differences in hand function in children with both congenital and acquired hand disorders.
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- 2024
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5. Effects of Mirror Neurons-Based Rehabilitation Techniques in Hand Injuries: A Systematic Review and Meta-Analysis.
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Tofani M, Santecchia L, Conte A, Berardi A, Galeoto G, Sogos C, Petrarca M, Panuccio F, and Castelli E
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- Humans, Mirror Neurons, Physical Therapy Modalities, Recovery of Function, Hand Injuries rehabilitation, Neurological Rehabilitation
- Abstract
Background: Hand trauma requires specific rehabilitation protocol depending on the different structures involved. According to type of surgical intervention, and for monitoring pain and edema, post-operative rehabilitation of a hand that has experienced trauma involves different timings for immobilization. Several protocols have been used to reduce immobilization time, and various techniques and methods are adopted, depending on the structures involved. Objective: To measure the effects of mirror neurons-based rehabilitation techniques in hand injuries throughout a systematic review and meta-analysis. Methods: The protocol was accepted in PROSPERO database. A literature search was conducted in Cinahl, Scopus, Medline, PEDro, OTseeker. Two authors independently identified eligible studies, based on predefined inclusion criteria, and extracted the data. RCT quality was assessed using the JADAD scale. Results: Seventy-nine suitable studies were screened, and only eleven were included for qualitative synthesis, while four studies were selected for quantitative analysis. Four studies were case reports/series, and seven were RCTs. Nine investigate the effect of Mirror Therapy and two the effect of Motor Imagery. Quantitative analyses revealed Mirror Therapy as effective for hand function recovery (mean difference = −14.80 95% Confidence Interval (CI) = −17.22, −12.38) (p < 0.00001) in the short term, as well as in long follow-up groups (mean difference = −13.11 95% Confidence Interval (CI) = −17.53, −8.69) (p < 0.00001). Clinical, but not statistical, efficacy was found for manual dexterity (p = 0.15), while no benefit was reported for range of motion. Conclusions: Mirror neurons-based rehabilitation techniques, combined with conventional occupational and physical therapy, can be a useful approach in hand trauma. Mirror therapy seems to be effective for hand function recovery, but, for motor imagery and action observation, there is not sufficient evidence to recommend its use. Further research on the efficacy of the mirror neurons-based technique in hand injury is recommended.
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- 2022
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6. The Versatility of the Free Vastus Lateralis Muscle Flap: Orbital Reconstruction After Removal of Complex Vascular Malformation in a Pediatric Patient.
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Grussu F, Santecchia L, Urbani U, Spuntarelli G, Rollo M, El Hachem M, Romanzo A, and Zama M
- Abstract
Introduction: Vascular orbital lesions in pediatric population represent a demanding therapeutic challenge which requires a multidisciplinary team. In severe cases, orbital enucleation can be considered. Surgical management of enucleated orbital region in children, differently from the adults, represents a challenging procedure owing to the intrinsic relation between volume replacement and normal orbital growth. Many reconstructive options have been proposed, and many donor sites have been utilized for this purpose but each one have demonstrated potential disadvantages. Despite its well-known versatility, no report of the vastus lateralis free flap in children requiring orbital reconstruction exists in literature. Herein, we propose this surgical strategy as a valid option for the reconstruction of an extended orbital defect in a pediatric patient suffering from a mixed type of vascular malformation. Material and Methods: A patient was referred from a foreign country with an unclear medical history, presenting exorbitism and exophthalmos, proptosis of the eyeball, visus 4/10, and limited ocular motility. We made clinical-instrumental investigations with a diagnosis of complex vascular malformation. It expanded in intraorbital and retrorbital space with bulb anterior dislocation and optic nerve involvement. We performed an emptying of the orbital content via transconjunctival and via coronal incision with eyelid preservation. A free vastus lateralis muscle flap was used for reconstruction, filling the orbital cavity. We anastomosed the flap on the superficial temporal artery. An ocular conformator was then positioned. Results: We report the result at 12 months, showing a good orbital rehabilitation with an adequate prosthetic cavity, a good recovery of volume and facial symmetry, guaranteeing balanced orbital and periorbital growth. There were no major or minor complications associated with the procedure. Discussion: The reconstruction of the orbit remains a "surgical challenge" both in adults, whose goal is the restoration of volume, adequate symmetry and facial esthetics, and children, in which correcting the asymmetry has the additional objective to balance orbital growth. Many reconstructive techniques have been proposed, including the use of free flaps. The versatility of the free vastus lateralis muscle flap is well-known. It offers adequate amount of tissue with minimal morbidity to the donor site, provides a long pedicle, gives the possibility of simultaneous work in a double team, and has a constant anatomy and a safe and rapid dissection. There are no descriptions of its use for pediatric orbital reconstructions. Conclusions: In our opinion, the free vastus lateralis flap should be included as one of the best option for orbital pediatric reconstruction after enucleation., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2021 Grussu, Santecchia, Urbani, Spuntarelli, Rollo, El Hachem, Romanzo and Zama.)
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- 2021
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7. Interosseous Membrane Release for Long-Standing Upper Limb Lymphedema: A Procedure Often Neglected.
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Santecchia L, Ciudad P, Mouchammed A, Amoroso M, and Chen HC
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- 2017
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8. Early reconstruction of the abdominal wall in giant omphalocele.
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Zama M, Gallo S, Santecchia L, Bertozzi E, Zaccara A, Trucchi A, Nahom A, Bagolan P, and De Stefano C
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- Female, Humans, Infant, Newborn, Male, Surgical Flaps, Surgical Mesh, Treatment Outcome, Abdominal Wall surgery, Hernia, Umbilical surgery, Plastic Surgery Procedures methods
- Abstract
Omphalocele is the most common congenital defect of the abdominal wall. Mortality rate is between 20 and 70% and early closure of the abdominal wall, within 10 days of life, is vital to the successful outcome of the surgical treatment. The authors describe the use of two bipedicled flaps of abdominal skin to correct the defect of the midline as soon as the reduction of all viscera has been accomplished.
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- 2004
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