CERCETARE

În cadrul Nucleului de Cercetare Științifică Medicală lucrează:

  • un cercetător științific, medic primar genetică medicală, Doctor în Medicină,
  • un cercetător științific, fiziokinetoterapeut, ȘL, Doctor în Medicină.
  • Rezultatele cercetării noastre sunt prezentate în articole publicate în reviste de specialitate și în postere și prezentări susținute la simpozioane și conferințe naționale și internaționale.

     

    Activitate Nucleul de Cercetare Stiintifica

      Proiecte depuse/implementate/in curs de implementare:

      A Randomized, Double-Blind, Dose Finding and Comparison Study of the Safety and Efficacy of a High Dose of Eteplirsen, Preceded by an Open-Label Dose Escalation, in Patients with Duchenne Muscular Dystrophy With Deletion Mutations Amenable to Exon 51 Skipping

       Nucleul de Cercetare Stiintifica a coordonat activitatea pana cand studiul a trecut de faza de fezabilitate (a fost aprobat).

      An Open-Label Safety, Tolerability and Pharmacokinetic Study of Veseteplirsen in Infants and Children with Duchenne Muscular Distrophy Amenable to Exon 51 Skipping: SRP 5051-104

      Nucleul de Cercetare Stiintifica a initiat implementarea studiului in CNC RNC ,,Dr. Nicolae Robanescu’’ - urmeaza studiul de fezabilitate in vederea evaluarii eligibilitatii spitalului pentru participarea la acest studiul, Principal Investigator fiind dna dr Madalina Leanca.

      • Mentiune – studiile de mai sus impreuna cu un al treilea - A Phase 3, Randomized, Double-blind, Placebo-controlled, Multicenter Study with a Treatment and Observation Period to Evaluate the Safety and Efficacy of Veseteplirsen (SRP-5051) in Ambulatory Subjects with Duchenne Muscular Dystrophy Amenable to Exon 51 Skipping Treatment (MOTIVATE)– SRP 5051-301-MOTIVATE – aflat deja in derulare - au fost initiate de Nucleul de Cercetare stiintifica alaturi de echipa multidisciplinara a CNC RNC Dr Nicolae Robanescu in urma colaborarii stabilite cu cu compania biofarma Sarepta (Cambridge, Massachussets, SUA), in anul 2020, colaborare inceputa ca urmare a numarului mare de pacienti cu distrofie musculara Duchenne ce se adreseaza anual spitalului nostru.

      Integrating clinical and genomic data across borders for early prevention, treatment and research of rare diseases using AI-powered solutions. Acronimul proiectului: BabyAId. Aplicatia nr: 101137145. Proiect tip: HORIZON-HLTH-2023-TOOL-05-04, HORIZON-RIA.

      Nucleul de Cercetare Stiintifica al CNC RNC ,,Dr Nicolae Robanescu’’ a fost coordonator, au participat 14 parteneri (spitale, universitati si companii private) din 9 tari, dintre care 6 din UE si 3 din afara UE. Proiectul, extrem de complex, a fost depus in data de 13 aprilie 2023.

      Proiectul a obtinut 10 puncte din 12, necesarul pentru a primi finantare.

      International cooperation in rehabilitation of children and youth with acquired brain damage – proiect internațional Erasmus+ 2017-1-RO01-KA202-037477

       

      The social value of VET. European experiences in esthetic and well-being – proiect internațional Erasmus+ 2019-1-IT01-KA202-007789

       

      Approaches in Rehabilitation of Children with TBI – proiect internațional Erasmus+ 2019-1-RO01-KA202-063184

       

      Studiu privind eficacitatea mijloacelor moderne de recuperare functionala a mainii prin tehnici pasive, la pacientii cu PC (paralizie cerebrala)

      Studiu privind stilurile parentale adoptate de parinti cu copii cu PC (paralizie cerebrala)

       

       

      Publicatii elaborate de Nucleul de Cercetare Stiintifica sau la care Nucleul de Cercetare Stiintifica a colaborat:

      Articole publicate in reviste cotate ISI:

       

      1. Shelby ES, Morris M, Pădure L, Mirea A, Cocoș R, Cărămizaru A, Șerban-Sosoi S, Pîrvu A, Streață I. Expanding the Clinical Phenotype of 19q Interstitial Deletions: A New Case with 19q13.32-q13.33 Deletion and Short Review of the Literature. Genes. 2022; 13(2):212. https://doi.org/10.3390/genes13020212

       

      1. Cocos R, Mahler B, Turcu-Stiolca A, Stoichita A, Ghinet A, Shelby ES, Bohiltea LC. Risk of Death in Comorbidity Subgroups of Hospitalized COVID-19 Patients Inferred by Routine Laboratory Markers of Systemic Inflammation on Admission: A Retrospective Study. 2022; 14(6), 1201. https://doi.org/10.3390/v14061201.

       

      1. Stefanescu S, Cocos R, Turcu-Stiolica A, Mahler B, Meca AC, Giura AMC, Bogdan M, Shelby ES, Zamfirescu G, Pisoschi CG. Evaluation of prognostic significance of hematological profiles after the intensive phase treatment in pulmonary tuberculosis patients from Romania. PLoS One. 16(4): e0249301. Doi: 10.1371/journal.pone.0249301. PMID: 33793598. (Toti autorii au contribuit in mod egal)

       

      1. Stefanescu S, Cocos R, Turcu-Stiolica A, Shelby E-S, Matei M, Subtirelu M-S, Meca A-D, Stanciulescu EC, Popescu SO, Biciusca V, Pisoschi CG. Prediction of Treatment Outcome with Inflammatory Biomarkers after 2 Months of Therapy in Pulmonary Tuberculosis Patients: Preliminary Results. Pathogens 2021,10, 789. https://doi.org/10.3390/pathogens10070789.

       

      1. Mirea A, Shelby ES, Axente M, Badina M, Padure L, Leanca M, Dima V, Sporea C. Combination Therapy with Nusinersen and Onasemnogene Abeparvovec-xioi in Spinal Muscular Atrophy Type I. Clin. Med. 2021. 10(23): 5540. https://doi.org/10.3390/jcm10235540

       

       

      1. Streata I, Caramizaru A, Riza A-L, Serban-Sosoi S, Pirvu A, Cara M-L, Cucu M-G, Dobrescu AM, Ro-NMCA-ID Group, CexBR Pediatric Neurology Obregia Group, CexBR Pediatric Neurology ,,V. Gomoiu’’ Hospital Group, Shelby E-S, Albeanu A, Burada F, Ioana M. Pathogenic Copy Number Variations Involved in the Genetic Etiology of Syndromic and Non-Syndromic Intellectual Disability – Data from a Romanian Cohort. 2022; 12(12):3137. https://doi/org/10.3390/diagnostics12123137

       

      1. Badina M, Bejan GC, Sporea C, Padure L, Mirea A, Leanca M-C, Axente M, Grigoras FP, Bejan M, Shelby E-S, Neagu E, Ion DA. Changes in pNFH Levels in Cerebrospinal Fluid and Motor Evolution after the Loading Dose with Nusinersen in Different Types of Spinal Muscular Atrophy. Medicina. 2023; 59(7):1244. https://doi.org/10.3390/medicina59071244

       

      1. Mirea A, Leanca MC, Onose G, Sporea C, Padure L, Shelby ES, Dima V, Daia C. Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome. Front. Biosci. (Landmark Ed). 2022. 27(6): 179. https://doi.org/10.31083/j.fbl2706179.

       

      1. Burcea C-C, Bobu V, Ferechide D, Neagoe IC, Lupusoru GE, Sporea C, Lupusoru MOD. New methodological aspects in rehabilitation after proximal humerus fracture. Balneo and PRM Research Journal. https: //doi.org/10.12680/balneo.2023.555.

       

      1. Axente M, Sporea C, Mirea A, Burcea CC, Ion DA. Time-Efficacy in SMA Type 1 and 2 Cases Treated with Nusinersen. Balneo and PRM Research Journal. 2(14): 566. DOI: 10.12680/balneo.2023.566.

       

      1. Sporea, C., Florescu, M.S., Orzan, O.A., Cristescu, I. (2020). Improving the perspectives on quality of life for adolescents with cerebral palsy by medical textile. In: Industria Textila, 2020, 71, 1, 81–90, http://doi.org/10.35530/IT.071.01.1779.

       

       

      1. Sporea, C., Florescu, M.S., Ferechide, D., Cristescu, I. (2020). Comparative assessment of dexterity tests results using two internationally recognized scales in patients with cerebral palsy, users of medical textiles. In: Industria Textila, 2020, 71, 4, 388–392, http://doi.org/10.35530/IT.071.04.20205.

       

      1. Axente, M.; Mirea, A.; Sporea, C.; Pădure, L.; Drăgoi, C.M.; Nicolae, A.C.; Ion, D.A. Clinical and Electrophysiological Changes in Pediatric Spinal Muscular Atrophy after 2 Years of Nusinersen Treatment. Pharmaceutics. 2022; 14(10):2074. https://doi.org/10.3390/pharmaceutics14102074, https://www.mdpi.com/1999-4923/14/10/2074/htm

       

      1. Burcea, C.-C.; Bobu, V.; Ferechide, D.; Neagoe, I. C.; Lupușoru, G. E.; Sporea, C.; Lupușoru, M. O. D. (2023). New methodological aspects in rehabilitation after proximal humerus fracture. Balneo and PRM Research Journal, 14(2):555, http://bioclima.ro/Balneo555.pdf

       

       

      1. Axente, M.; Sporea, C.; Mirea, A.; Burcea, C.-C.; Ion, D. A. (2023). Time-Efficacy in SMA Type 1 and 2 Cases Treated with Nusinersen. Balneo and PRM Research Journal, 14(2):566, http://bioclima.ro/Balneo566.pdf

       

      1. Neacsu A.M., Sporea C., Anton N., Lapusneanu L., Andrei M.C., Cosman M., Ferechide D. The impact of glaucomatous disease on lifestyle and healthy aging. Association between structural visual and auditory functional changes in glaucoma. Balneo and PRM Research Journal, 2023, 14(3): 582. https://doi.org/10.12680/balneo.2023.582http://bioclima.ro/Balneo582.pdf

       

       

      1. Onose, G., Popescu, N., Munteanu, C., Ciobanu, V., Sporea, C., Mirea, M. D., Daia, C., Andone, I., Spînu, A., and Mirea, A. (2018). Mobile Mechatronic/Robotic Orthotic Devices to Assist–Rehabilitate Neuromotor Impairments in the Upper Limb: A Systematic and Synthetic Review. Neurosci. 12:577. doi: 10.3389/fnins.2018.00577, https://www.frontiersin.org/articles/10.3389/fnins.2018.00577/full

       

       

      Articole publicate in reviste cotate BDI:

       

      1. Elena Silvia Shelby, Madalina Cristina Leanca, Serban Hamei, Liliana Padure, Andrada Mirea. Clinical and genetic aspects in the Ehlers Danlos syndrome. Ro J Pediatr. 2020; 69(4). DOI: 10.37897/RJP.2020.4.17.

       

      1. Elena-Silvia Shelby, Tanser Huseyinoglu, Georgeta Cardos, Liliana Padure, Andrada Mirea, Madalina Leanca, Mihaela Badina, Nadejda Barladeanu, Florina Mihaela Nedelea. 1q44 microdeletion syndrome: A new case with potential additional features. Ro J Med Pract. 2021; 16(1); 92 – 96. DOI: 10.37897/RJMP.2021.1.16

       

      1. Elena Silvia Shelby, Onda Tabita Lupu, Mihaela Axente, Madalina Cristina Leanca, Mihaela Badina, Liliana Padure, Andrada Mirea, Liisa M. Pelttari. New VOUS in CASK gene correlating with the MICPCH phenotype. MAEDICA. 2021; 16(1): 143 – 147.

       

      1. Elena-Silvia Shelby, Andrada Mirea. Innovative therapies in genetic diseases: spinal muscular atrophy. Ro J Pediatr. 2021; 70(2). DOI: 10.37897/RJP.2021.2.4.

       

      1. Elena-Silvia Shelby, Madalina Cristina Leanca, Andrada Mirea, Diana Bara. Phenotypic manifestations of C5orf42 pathogenic variants. Ro J Pediatr. 2022. 71(1): 39-46. Vol XXI, N0.1, 2022. DOI: 10.37897/RJP.2022.1.8.

       

      1. Sporea, C., Ferechide, D. (2021). Influence of the Upper Limb Motor Deficit on Functional Independence in Patients with Cerebral Palsy. In: Modern Medicine, 2021, 28, 1, 77-82, https://doi.org/10.31689/rmm.2021.28.1.77

       

      1. Shelby, E. S., Nedelea, F. M., Huseyinoglu, T., Cocos, R., Badina, M., Sporea, C., Padure, L., Mirea, A. (2021). Innovative Therapies in Genetic Diseases: Cystic Fibrosis. In: Revista Română de Pediatrie, 2021, 70, 1, 21-25, https://rjp.com.ro/articles/2021.1/RJP_2021_1_RO_Art-04.pdf

       

      1. Sporea, C., & Ferechide, D. (2021). Benefits of Upper Limb Functional Electrical Stimulation in Children with Spastic Cerebral Palsy. Modern Medicine, 28, 2, 201-207, https://doi.org/10.31689/rmm.2021.28.2.201

       

      1. Axente, M., Shelby, E-S., Mirea, A., Sporea, C., Badina, M., Padure, L., Ion, D.A. (2021). Clinical features and genetics in non-5q spinal muscular atrophy caused by acid ceramidase deficiency. Journal of Medicine and Life, 14(3), 424 – 428, https://medandlife.org/wp-content/uploads/20.-jml-2021-0147.pdf

       

       

       

      Articole publicate în reviste neindexate

       

      1. Padure L, Mirea A, Popescu ES. Diagnosis and management strategies of the genetic diseases with neurological involvement. JML. 2019. 265-275.

       

      1. Sporea, C., Morcov, M.V., Pădure, L., Avramescu, E.T. (2018). New Approaches in Health Education for Rehabilitation of Children and Youth with Acquired Brain Injury. International Multidisciplinary Scientific Conference on Social Sciences & Arts SGEM 2018, Albena, Bulgaria, 26 August – 01 September, 557-564. doi: 10.5593/sgemsocial2018/3.5.

       

      1. Cinteză, D., Ionescu, E-V, Mirea, A., Onose, G., Sporea, C. (2019) Rolul Tehnologiei și Inovației în Recuperare, Medicină Fizică și Balneoclimatologie. Recuperarea, Medicina Fizică și Balneoclimatologia în An Centenar. Medica Academica. Supliment Decembrie 2018, pg. 68-74

       

       

      Lucrari prezentate in cadrul conferintelor de specialitate (nationale si internationale):

       

      1. Rasterstereography – modern method for real-time monitoring of idiopathic scoliosis treatment – Ana Maria Balint, Corina Sporea, Adriana Zaharia, Liliana Pădure. Congresul Universității de Medicină și Farmacie “Carol Davila” București, Ediția a V-a, București, mai 2017 – poster
      2. Gait rehabilitation using modern computerized methods with active participation of patients in autocorrect posture during movements – Geanina Florentina Stăncioiu, Corina Sporea, Liliana Pădure. Congresul Universității de Medicină și Farmacie “Carol Davila” București, Ediția a V-a, București, mai 2017 – poster
      3. Abordare kinesiologică modernă în tratamentul conservator al scoliozei idiopatice – Adriana Zaharia, Corina Sporea, Liliana Pădure. Congresul Național Anual al Societății Române de Medicină Fizică, de Recuperare și Balneoclimatologie (SRMFRB) cu participare internațională, Techirghiol, mai 2017 – prezentare
      4. Interdisciplinary cooperation in rehabilitation of children and youth with aquired brain injury (Proiect transnațional Erasmus+ desfășurat în perioada 2017 – 2019) – membru al echipei Centrului Național Clinic de Recuperare Neuropsihomotorie pentru Copii „Dr. Nicolae Robănescu”
      5. Robot-assissted upper limb rehabilitation after traumatic elbow stiffness – Liliana Pădure, Andrada Mirea, Corina Sporea. The 23rd Annual Euroacademia Multidisciplinaria Neurotraumatologica Congress, Pécs, Hungary, May 2018 – poster
      6. Mechatronic/ robotic stationary devices for upper limb neuromotor deficits’ rehabilitation, currently used in clinical settings – Andrada Mirea, Corina Sporea, Liliana Pădure, Vlad Ciobanu, Gelu Onose. Romanian Congress of Rehabilitation, Physical Medicine and Balneology with international participation, Cluj-Napoca and Turda, Romania, May 2018 – presentation
      7. Gait rehabilitation using classical and computerized methods in patients with cerebral paralysis – Ana Maria Morintz, Corina Sporea, Andrada Mirea, Liliana Pădure. Congresul Universității de Medicină și Farmacie “Carol Davila” București, Ediția a VI-a, București, mai 2018 – poster
      8. Spatio-temporal gait parameters evolution in children with orthotic devices – Liliana Pădure, Corina Sporea. 12th World Congress of the International Society of Physical and Rehabilitation Medicine (ISPRM 2018), Paris, France, July 2018 – poster
      9. Research on integrated ways of developing competence in typing and handwriting skills in pre-school children with cerebral palsy – Corina Sporea, Gelu Onose. Al 12-lea Congres al Asociației Medicale Române, București, august 2018 – poster
      10. Rationale and Preliminary Steps Towards the Implementation of a Master Programe in Podology/Podiatry within the “Carol Davila” University of Medicine and Pharmacy – Liliana Pădure, Gelu Onose, Mihaela Mandu, Mihai Băilă, Corina Sporea, Simona Carniciu, Andrada Mirea, Cătălin Moghioroiu, Ioana Andone, Liliana Onose, Florin Drăgan, Cristian Dumitru Badiu and Constantin Ionescu-Tîrgoviște. Al 12-lea Congres al Asociației Medicale Române, București, august – septembrie 2018
      11. New Approaches in Health Education for Rehabilitation of Children and Youth with Acquired Brain Injury – Corina Sporea, Maria Veronica Morcov, Liliana Pădure, Elena Taina Avramescu. 5th International Multidisciplinary Scientific Conference on Social Sciences and Arts (SGEM 2018), Albena, Bulgaria, august – septembrie 2018 – poster
      12. Mobile Mechatronic/ Robotic Orthotic Devices to Assist-Rehabilitate Neuromotor Impairments in the Upper Limb: A Systematic and Synthetic Review – Gelu Onose, Nirvana Popescu, Constantin Munteanu, Vlad Ciobanu, Corina Sporea, Daniel Mirea, Cristina Daia, Ioana Andone, Aura Spânu, Andrada Mirea. Frontiers in Neuroscience – 05.09.2018
      13. Report for the current state of the art in the field of rehabilitation protocols of children and youth with acquired brain damage – prezentare orală susținută în cadrul Sesiunii Academice, ediția a III-a, cu ocazia primului eveniment de multiplicare a proiectului Erasmus+ „Interdisciplinary cooperation in rehabilitation of children and youth with acquired brain damage” (2017-1-RO01-KA202-037477) – București, 07.09.2018
      14. A topical systematic literature review and reappraisal on essays towards systematizing clinical assessment instruments used to evaluate neuro-functional deficits after spinal cord injuries, mainly in adults, including through the ICF(-DH) conceptual framework – Gelu Onose, Vlad Ciobanu, Corina Sporea. Congresul Național, cu participare internațională, de Medicină Fizică, de Recuperare și Balneologie 2019, Galați, 3 – 6 septembrie 2019 – prezentare
      15. Proprioceptive Functional Vibration Stimulation as therapeutic tool in spasticity management of jump gait pattern of spastic diplegic children with cerebral palsy – Andra Pintilie, Liliana Pădure, Andrada Mirea, Corina Sporea. Congresul Național, cu participare internațională, de Medicină Fizică, de Recuperare și Balneologie 2019, Galați, 3 – 6 septembrie 2019 – poster
      16. Modern computerized techniques for gait’s functional evaluation through a specialized wireless inertial sensor – premise for orthopedic corrective shoes wear in children with gait disorders secondary to Cerebral Palsy – Andra Pintilie, Liliana Pădure, Andrada Mirea, Corina Sporea. Congresul Național, cu participare internațională, de Medicină Fizică, de Recuperare și Balneologie 2019, Galați, 3 – 6 septembrie 2019 – poster
      17. Respiratory Management in Patients with Rare Progressive Neuromuscular Diseases – Andrada Mirea, Gelu Onose, Madalina Leanca, Florin-Petru Grigoras, Mihaela Axente, Liliana Padure, Corina Sporea. Congresul Național, cu participare internațională, de Medicină Fizică, de Recuperare și Balneologie 2019, Galați, 3 – 6 septembrie 2019 – poster
      18. The contribution of robot-assisted therapy to the hand functional improvement during the rehabilitation program for children with spastic hemiplegic cerebral plasy – Vlăduț Marian Merăuță, Corina Sporea, Andrada Mirea, Liliana Pădure. Congresul Universității de Medicină și Farmacie “Carol Davila” București, Ediția a VII-a, București, 10 – 12 octombrie, 2019 – poster
      19. Impact of Kinetotherapy in Spinal Muscular Atrophy Therapy in Patients Treated with Nusinersen – Andrada Mirea, Liliana Pădure, Mădălina Leancă, George Marinescu, Bogdan Preda, Corina Sporea, Tiberiu Spircu, Gelu Onose. Congresul Național de Medicină Fizică, de Recuperare și Balneologie din România, online, 2 – 5 septembrie 2020 – poster
      20. NEUROPED-REHAB – A New Platform for Children and Youth with Acquired Brain Injury – Maria Veronica Morcov, Liliana Pădure, Corina Sporea. Congresul Național de Medicină Fizică, de Recuperare și Balneologie din România, online, 2 – 5 septembrie 2020 – prezentare
      21. Using Robot-Assisted Therapy in Children’ Pathology – Liliana Pădure, Corina Sporea, Andrada Mirea. Congresul Național de Medicină Fizică, de Recuperare și Balneologie din România, online, 2 – 5 septembrie 2020 – prezentare
      22. A relatively new method of neurophysiological exploration – for the first time in Romania – near-infrared functional spectroscopy, NIRS/fNIRS technical details/conceptual and practical clarifications regarding its use in pediatric rehabilitation – Irina Raluca Petcu, Liliana Pădure, Corina Sporea, Mihaela Oprea, Mihai Băilă, Gelu Onose. Congresul Național de Medicină Fizică, de Recuperare și Balneologie din România, Covasna, September 1 – 5, 2021 – prezentare
      23. Terapia combinată – Nusinersen și Onasemnogene Abeparvovec-Xioi – la pacienți cu atrofie musculară spinală tip I – Andrada Mirea, Mihaela Axente, Corina Sporea. Al 45-lea Congres Național Anual de Medicină Fizică și de Reabilitare, București, Octombrie 13 – 15, 2022 – prezentare
      24. Centrul Național Clinic de Recuperare Neuropsihomotorie Copii “Dr. Nicolae Robănescu” – un Centru de excelență – Liliana Pădure, Corina Sporea, Maria Veronica Morcov, Cristian Gabriel Morcov. Zilele Academice ale Centrului Național Clinic de Recuperare Neuropsihomotorie Copii “Dr. N. Robănescu”, București, 14-15 septembrie 2023
      25. The role of medical genetics and the contribution of CNC RNC ,,Dr. Nicolae Robanescu in treating spinal muscular atrophy patients’’. Anniversary symposium – 50 years of existence of the Chilldren’s Recovery Clinic. December the 13th 2018.
      26. SMA – genetics. Bulgarian team training in treatment of SMA. 05-06 February 2019. CNC RNC ,,Dr. Nicolae Robanescu’’, Bucharest.
      27. Ehlers-Danlos syndrome. March the 27th, 2019. Dr. ,,Nicolae Robanescu’’ National Clinical Center for Children’s Neurorecovery. Bucharest
      28. Diagnosis and management strategies of genetic diseases with neurological determinations in CNC RNC ,,Dr. Nicolae Robanescu’’. ,,Types of care for the children with neurological disabilities’’. The XVIth National Conference of Balneology and Medical Recovery. Bucharest. 11-13 of April 2019.
      29. Angelman syndrome. CNC RNC ,,Dr. Nicolae Robanescu’’. Bucharest. June the 3rd 2019.
      30. Clinical Cases of the ,,Dr Nicolae Robanescu’’ National Clinical Center for Neuropsychomotor Rehabilitation in Children. 9th Medical Genetics Conference with International Participation. Timisoara, September 18-20th 2019.
      31. Spinal Muscular Atrophy Standards of Care in the National Clinical Center for Children’s Neurorecovery ,,Doctor Nicolae Robanescu’’. Authors: Leanca Madalina, Padure Liliana, Grigoras Petru-Florin, Oprea Adrian, Axente Mihaela, Badina Mihaela, Grigoriu Anca, Elena-Silvia Shelby, Dumangiu Mihail, Marinescu Iulian George, Preda Bogdan, Mirea Andrada. The 4th National Conference of the Romanian Society of Pediatric Neurology. Bucharest, 3rd – 5th of October 2019.
      32. The diagnosis in SMA – from suspicion to genetic testing. Madalina Leanca, Liliana Padure, Mihaela Axente, Badina Mihaela, Grigoriu Anca, Elena-Silvia Shelby, Dumangiu Mihai, Marinescu Iulian George, Preda Bogdan, Mirea Andrada. Standarde de ingrijire in traumatisme cranio-cerebrale si alte boli paralizante; sesiune academica, editia a IV-a. Standards of care in craniocerebral trauma and other paralysing diseases, 4th edition. 13.11 – 15.11.2019, ,,Dr. Nicolae Robanescu’’ National Clinical Center for Children’s Neurorecovery, Bucharest.
      33. Possibilities of drug treatment in spinal muscular atrophy. Madalina Leanca, Liliana Padure, Mihaela Axente, Badina Mihaela, Grigoriu Anca, Elena-Silvia Shelby, Dumangiu Mihai, Marinescu Iulian George, Preda Bogdan, Mirea Andrada. Standarde de ingrijire in traumatisme cranio-cerebrale si alte boli paralizante; sesiune academica, editia a IV-a. Standards of care in craniocerebral trauma and other paralysing diseases; academic session, 4th edition. 13.11 – 15.11.2019, ,,Dr. Nicolae Robanescu’’ National Clinical Center for Children’s Neurorecovery, Bucharest.
      34. Joubert syndrome. Ciliopathies. Elena-Silvia Shelby, Liliana Padure, Madalina Leanca, Adrian Oprea, Ioana Popa, Delia Ileana Sabau. Sesiunea academica ,,Aspecte etice si practice medicale centrate pe pacient’’, editia I-a. ,,Ethical and practical aspects centered on the patient’’ Academic Session, first edition. November the 29th, 2019, Turnu Magurele.
      35. Sanfilippo syndrome. Elena-Silvia Shelby, Liliana Padure, Madalina Leanca, Adrian Oprea, Ioana Popa, Delia Ileana Sabau. Sesiunea academica ,,Aspecte etice si practice medicale centrate pe pacient’’, editia I-a. ,,Ethical and practical aspects centered on the patient’’ academic session, first edition. November the 29th, 2019, Turnu Magurele.
      36. Neurofilaments – Biomarkers in Severity Assessment and Evolution of Pediatric Patients with Spinal Amiotrophy. Authors: Mihaela Badina, Andrada Mirea, Mihaela Bejan, Silvia Shelby, Mihaela Axente, Liliana Padure. Romanian Congress of Physical and Rehabilitation Medicine and Balneology. 2nd – 5th of September 2020, online.
      37. New Therapies in Spinal Muscular Atrophy. Authors: Andrada Mirea, Silvia Shelby, Madalina Cristina Leanca, Liliana Padure, Gelu Onose. Romanian Congress of Physical and Rehabilitation Medicine and Balneology. 2nd – 5th of September 2020, online.
      38. Elena-Silvia SHELBY, Liliana PADURE, Mihaela BADINA, Andrada MIREA. 1q44 microdeletion syndrome – an etiology of GDD which still hasn’t been fully explored. Romanian Annual National Congress of Physical and Rehabilitation Medicine & Balneology. Covasna, Romania, September 1 - 5, 2021.
      39. Elena-Silvia SHELBY, Mihaela AXENTE, Madalina Cristina LEANCA, Mihaela BADINA, Liliana PADURE, Andrada MIREA. MICPCH syndrome – a rare cause of NPMD. Romanian Annual National Congress of Physical and Rehabilitation Medicine & Balneology. Covasna, Romania, September 1 – 5, 2021.
      40. Elena-Silvia Shelby, Liliana Pădure. Personalized therapies in cystic fibrosis. 5th edition of the academic session ,,Multidisciplinary approach in the rehabilitation of the patient with neuropsychomotor disorders’’, organized by ,,Dr. Nicolae Robănescu’’ National Clinical Center for Children’s Neurorehabilitation, Bucharest, Sept.29th-Oct.1st, 2021.
      41. A new case of 19q13.32-q13.33 deletion, with previously unreported additional features. 12th National Conference of Medical Genetics. February the 25-26th, 2022. Online format.
      42. Elena-Silvia Shelby, Relu Cocos, Madalina Cristina Leanca, Andrada Mirea, Diana Barca. Efecte fenotipice ale variantelor patogenice in gena CPLANE1. Conferinta Nationala de Pediatrie ,,Progrese in Pediatrie’’, 6-9 aprilie 2022. Sectiunea Comunicări Orale. Bucuresti/Online.
      43. Elena-Silvia Shelby, Andrada Mirea, Mihaela Badina, Liliana Padure. Joubert Syndrome – A Rare Cause Of Hypotonia. Congresul National de Medicina Fizica, de Recuperare si Balneologie, Slanic Moldova, 3-7 septembrie 2022, Techirghiol, 7-10 septembrie 2022/Online.
      44. Elena-Silvia Shelby, Liliana Padure, Andrada Mirea, Mihaela Badina, Relu Cocos, Elena Neagu, Ioana Streata. New features of 19q13 microdeletion syndrome. Congresul National de Medicina a Familiei. Bucuresti/online, 26-29 octombrie 2022.
      45. Elena-Silvia Shelby, Andrada Mirea, Liliana Padure, Elena Neagu, Relu Cocos, Ioana Streata. Nimic nu este doar alb sau negru... Simpozionul virtual ,,Nuante in bolile rare’’. INSMC ,,Alessandrescu-Russescu’’. 28 februarie 2023. Bucuresti.
      46. Elena-Silvia Shelby. Screeningul, diagnosticul si tratamentul pacientilor cu boli rare ai CNC RNC ,,Dr. Nicolae Robanescu’’. Conferinta nationala de inchidere a Campaniei Internationale a Zilei Bolilor Rare. 1 martie 2023. Bucuresti.
      47. Cauze rare de cataracta congenitala la copil. Andra Pintilie, Elena-Silvia Shelby, Liliana Padure, Mihaela Axente, Mihaela Bejan, Elena Neagu, Corina Sporea, Mihaela Badina, Andrada Mirea. Conferinta Zilele Academice ale CNCRNC "Dr. N. Robănescu", 14-16 septembrie 2023.
      48. Importanta unui diagnostic rapid si precis in bolile lizozomale. Elena-Silvia Shelby, Andra Pintilie, Liliana Padure, Mihaela Axente, Elena Neagu, Anca Irina Grigoriu, Nicoleta Chiriloi, Corina Sporea, Andrada Mirea. Conferinta Zilele Academice ale CNCRNC "Dr. N. Robănescu", 14-16 septembrie 2023.
      49. Sub unu la un million: un nou caz al unui sindrom ultra-rar caracterizat de displazie scheletica si disautonomie. Serban Andrei Hamei, Traian Stefan Gavriliu, Bianca Mihaescu, George Marin, Liliana Padure, Andrada Mirea, Elena Neagu, Mihaela Badina, Elena-Silvia Shelby, Gelu Onose.
      50. Elena-Silvia Shelby, Mihaela Axente, Anca Irina Grigoriu, Liliana Padure. MPZ III - A clinical case. E-poster (E-P06.18). Congresul ESHG (Societatea Europeana de Genetica Medicala), 2020. European Human Genetics Virtual Conference. 6- 9 iun., 2020.
      51. Efectul recuperarii medicale asupra dezvoltarii motorii a unui pacient cu sindrom Prader Willi. Puiu M, Popa I, Badina M, Pintilie A, Shelby ES, Padure L. Congresul National al Universitatii de Medicina si Farmacie ,,Carol Davila’’, editia a 7-a. 10-12 oct. 2019. Bucuresti, Romania.
      52. Newborn Screening for Spinal Muscular Atrophy in Romania: 1 Year Experience of a Pilot Project at Robanescu Center. Elena Neagu, Oana Balanescu, Ecaterina Bercu, Elena-Silvia Shelby, Mihaela Badina, Madalina Cristina Leanca, Liliana Padure, Andrada Mirea. 13th Medical Genetics Conference with International Participation. Timisoara, 28th-30th of September, 2023.

       

      Rezumate publicate în reviste ale congreselor

      1. Balint, A.M., Sporea, C., Zaharia, A., Pădure, L. (2017). Rasterstereography – modern method for real-time monitoring of idiopathic scoliosis treatment. Maedica, a Journal of Clinical Medicine, Supplement, 12, 49 (BDI, ISSN: 2501-6903)
      2. Stăncioiu, G.F., Sporea, C., Pădure, L. (2017). Gait rehabilitation using modern computerized methods with active participation of patients in autocorrect posture during movements. Maedica, a Journal of Clinical Medicine, Supplement, 12, 107 (BDI, ISSN: 2501-6903)
      3. Morintz, A.M., Sporea, C., Mirea, A., Pădure, L. (2018). Gait rehabilitation using classical and computerized methods in patients with cerebral paralysis. Maedica, a Journal of Clinical Medicine, Supplement, 13, 60 (BDI, ISSN: 2501-6903)
      4. Sporea, C., Mirea, A., Onose, G., Pădure, L. (2019). Evaluarea comparativă a rezultatelor testelor de dexteritate utilizând două scale recunoscute la nivel internațional la pacienți cu paralizie cerebrală/Comparative assessment of dexterity tests results using two internationally recognized scales in patients with cerebral palsy. A XVI-a Conferinţă Naţională de Balneologie şi Recuperare Medicală, 66 (ISSN 2668-2354).
      5. Mirea, A., Leanca, M.C., Axente, A., Grigoraș, F.P., Marinescu, G.I., Dumangiu, M., Sporea, C., Pădure, L. (2019). Standarde de îngrijire în amiotrofia musculară spinală/Standards of care in spinal muscular atrophy. A XVI-a Conferinţă Naţională de Balneologie şi Recuperare Medicală, 83 (ISSN 2668-2354).
      6. Pădure, L., Onose, G., Mirea, A., Onose, V.L., Morcov, M.V., Daia, C.O., Sporea, C., Ciobanu, V., Andone, I., Morcov, C.G. (2019). Revistă sistematică și sintetică de literatură privind interrelații fiziologice între hormonii ce influențează funcțiile sexuală și de reproducere și biologia osoasă, la pubertate și adolescență/Systematic and synthetic literature review on physiological interrelations between hormones influencing sexual and reproductive functions and bone biology, in puberty and adolescence. A XVI-a Conferinţă Naţională de Balneologie şi Recuperare Medicală, 84 (ISSN 2668-2354).
      7. Merăuță, V.M., Sporea, C., Mirea, A., Pădure, L. (2019). The contribution of robot-assisted therapy to the hand functional improvement during the rehabilitation program for children with spastic hemiplegic cerebral plasy. Maedica, a Journal of Clinical Medicine, Supplement, 14, 82 (BDI, ISSN: 2501-6903)
      8. Pădure, L., Sporea, C., Mirea, A. (2020). Using Robot-Assisted Therapy in Children’ Pathology. Balneo Research Journal, 11(3), 58 (ISSN 2069-7597)
      9. Morcov, M.V., Pădure, L. Sporea, C. (2020). Neuroped-Rehab – A New Platform for Children and Youth with Acquired Brain Injury. Balneo Research Journal, 11(3), 64 (ISSN 2069-7597)
      10. Mirea, A., Pădure, L., Leanca, M.C., Marinescu, G.I., Preda, B., Sporea, C., Spircu, T., Onose, G. (2020). Kinesitherapy Impact On Rehabilitative Outcomes In Spinal Muscular Atrophy Nusinersen Treated Patients. Balneo Research Journal, 11(3), 98 (ISSN 2069-7597).
      11. Strategii de diagnostic si management al bolilor genetice cu determinari neurologice la pacientii din cadrul CNC RNC ,,Dr. Nicolae Robanescu’’. XVIth National Conference of Balneology and Medical Recovery. Print ISSN 2668-2354.
      12. Clinical Cases of the ,,Dr Nicolae Robanescu’’ National Clinical Center for Neuropsychomotor Rehabilitation in Children. Romanian Journal of Rare Diseases. Supplement 2019. ISSN 2068 – 5882. Victor Babes Printing House, Timisoara, Romania. Pag. 15.
      13. Elena Silvia Shelby, Mihaela Axente, Liliana Padure. Charcot Marie Tooth disease. Case Presentation. Balneo Research Journal. Romanian Association of Balneology. Bucharest, Romania. ISSN: 2069-7619. Pag. 368.
      14. Elena Silvia Shelby, Mihaela Axente, Liliana Padure. Genetic cases which require physical rehabilitation. Balneo Research Journal. Romanian Association of Balneology. Bucharest, Romania. ISSN: 2069-7619. Pag. 369
      15. Mirea, S. Shelby, M.C. Leanca, L. Padure, G. Onose. New Therapies in Spinal Muscular Atrophy. L66.Balneo Research Journal. Romanian Association of Balneology. Vol.11 No.3. September 2020. National Congress of Romanian Physical Medicine, Recovery and Balneology. eISSN 2069-7619; pISSN 2069-7597.
      16. Badina, A. Mirea, M. Bejan, S. Shelby, M. Axente, M.C. Leanca, L. Padure. Neurofilaments – Biomarkers in Severity Assessment and Evolution of Pediatric Patients with Spinal Amyotrophy. L65. Balneo Research Journal. L66. Romanian Association of Balneology. Vol.11 No.3. September 2020. National Congress of Romanian Physical Medicine, Recovery and Balneology. eISSN 2069-7619; pISSN 2069-7597.
      17. SHELBY Elena-Silvia, PĂDURE Liliana, BĂDINA Mihaela, MIREA Andrada - 1q44 microdeletion syndrome – an etiology of GDD which still hasn't been fully explored. Balneo and PRM Research Journal. Vol.12. No.3. p: L37. September 2021. eISSN 2734-8458; pISSN 2734-844X. DOI: http://dx.doi.org/10.12680/balneo.2021.452. ESCI (Thomson Reuters) indexed.
      18. SHELBY Elena-Silvia, AXENTE Mihaela, LEANCA Mădălina Cristina, BĂDINA Mihaela, PĂDURE Liliana, MIREA Andrada - MICPCH syndrome – a rare cause of NPMD. Balneo and PRM Research Journal. Vol.12 No.3. p: L39. September 2021. eISSN 2734-8458; pISSN 2734-844X. DOI: http://dx.doi.org/10.12680/balneo.2021.452. ESCI (Thomson Reuters) indexed
      19. Elena-Silvia Shelby, Liliana Padure, Andrada Mirea, Relu Cocos, Alexandru Caramizaru, Simona Serban-Sosoi, Andrei Pirvu, Ioana Streata. Un nou caz de deletie 19q13.32 – q13.33, cu trasaturi aditionale neraportate pana in prezent./ A new case of 32 – q13.33, with never before reported additional features. The 12th National Conference of Medical Genetics ,,Rare Diseases in Genetics’’, online format, 25th-27th of February, 2022. Abstract volume. Page 24.
      20. Elena-Silvia Shelby, Relu Cocoș, Mădălina Cristina Leanca, Andrada Mirea, Diana Bârcă. Efecte fenotipice ale variantelor patogenice in gena CPLANE1/ Phenotypic effects of pathogenic variants in CPLANE1 gene. Romanian Journal of Pediatric. Volume XXI, Supplement, Year 2022. Page 59. DOI: 37897/RJP. ISSN 1458-0398; e-ISSN 2069-6175; ISSN-L 1454-0398.
      21. Elena-Silvia Shelby, Andrada Mirea, Mihaela Badina, Liliana Padure. Joubert Syndrome – A Rare Cause Of Hypotonia. . Balneo and PRM Research Journal. Vol.13, No.3, p:L74. September 2022. eISSN 2734 -8458; pISSN 2734-844X. DOI: 10.12690/balneo.2022. ESCI (Thompson Reuters) indexed.
      22. Neagu E, Balanescu O, Bercu E, Badina M, Shelby S, Moisa M, Leanca M, Axente M, Dima V, Serban M, Toma A, Stoicescu S, Padure L, Mirea A. Newborn screening for spinal muscular atrophy in Romania: a pilot project. 6th Congress of Medical Genetics with International Participation. Craiova, 22nd-25th of September 2022. Abstract volume. Page 39. Editura Medicala Universitara. Craiova 2022.
      23. Elena-Silvia Shelby, Liliana Padure, Andrada Mirea, Mihaela Badina, Relu Cocos, Elena Neagu, Ioana Streata. New features of 19q13 microdeletion syndrome. Romanian Journal of Medical Practice. Vol.17, Suppl.4(90), Year 2022

       

       

       

      Cărți și capitole în cărți

       

      1. Guideline for best practices in rehabilitation of children and youth with acquired brain damage – Liliana Pădure, Maria Veronica Morcov, Corina Sporea, Mihaela Axente, Anca Grigoriu, Andra Pintilie, Sylvain Brochard, Matilde Chevignard, Genevieve Abada, Helene Labrault, Anette Granhoj Christoffersen, Sofie Hur Reimers, Lise From, Henrik Haubro, Niels Terp, Huseyin Koc, Editura Universitară "Carol Davila", București, 2019 (ISBN 978-606-011-109-2)
      2. Onose, G., Morcov, M. V., Sporea, C., Mirea, A., & Ciobanu, V. (2021). Augmentation and Rehabilitation with Active Orthotic Devices. In Modern Approaches to Augmentation of Brain Function (pp. 521-548). Springer, Cham.

       

       

       

      Premii obtinute la manifestari stiintifice/articole premiate:

       

       

      1. Premiul I la Congresul National de Medicina Fizica, de Recuperare si Balneologie (1-5 septembrie 2021), cu lucrarea: 1q44 microdeletion syndrome – an etiology of GDD which still hasn’t been fully explored, autori: Elena-Silvia Shelby, Liliana Padure, Mihaela Badina, Andrada Mirea. Certificat de participare seria ARB-SRMFRB sp Nr. 04/ 04.09.2021.

       

      1. Premiul National pentru Stiinta si Cercetare pentru articolul: ,,Sindromul de microdeletie 1q44 – un nou caz cu posibile trasaturi aditionale’’, autori: Elena-Silvia Shelby, Tanser Huseyinoglu, Georgeta Cardos, Liliana Padure, Andrada Mirea, Madalina Leanca, et. al., publicat in Revista Romana de Practica Medicala in 2021, DOI: 10.37897/RJMP.2021.1.16.  Acordat de Societatea Academica de Medicina de Familie si Revista Romana de Practica Medicala. Certificat Seria RJMP Nr. 21.03 eliberat la data de 15.11.2022.

       

      1. Premierea rezultatelor cercetarii PRECISI 2021 – articol premiat: Stefanescu S, Cocos R, Turcu-Stiolica A, Shelby E-S, Matei M, Subtirelu M-S, Meca A-D, Stanciulescu EC, Popescu SO, Biciusca V, Pisoschi CG. Prediction of Treatment Outcome with Inflammatory Biomarkers after 2 Months of Therapy in Pulmonary Tuberculosis Patients: Preliminary Results. Pathogens 2021,10, 789. https://doi.org/10.3390/pathogens10070789.

       

      1. Premierea rezultatelor cercetarii PRECISI 2022 – articol premiat: Cocos R, Mahler B, Turcu-Stiolca A, Stoichita A, Ghinet A, Shelby ES, Bohiltea LC. Risk of Death in Comorbidity Subgroups of Hospitalized COVID-19 Patients Inferred by Routine Laboratory Markers of Systemic Inflammation on Admission: A Retrospective Study. Viruses. 2022; 14(6), 1201. https://doi.org/10.3390/v14061201.

       

      1. Diplomă de excelență obținută la cel de-al 12-lea Congres Anual al Asociației Medicale Române (București, 2018)

       

      Review-uri la articole stiintifice:

       

      1. Journal of Pharmaceutical Research International, Certificat nr. SDI/HQ/PR/Cert/78942/ELE, din 27 decembrie 2021.

       

      1. Journal of Pharmaceutical Research International, Certificat nr. SDI/HQ/PR/Cert/80937/ELE, din 11 februarie 2022.

       

      1. Frontiers in Genetics, articolul Zhang R, Jia P, Yao Y and Zhu F (2022) Case Report: Identification of a novel CASKmissense variant in a Chinese family with MICPCH.  Genet. 13:933785. doi: 10.3389/fgene.2022.93378.

       

      1. International Journal of Molecular Sciences, articolul Long-term SMN- and Ncald-ASO combinatorial therapy in SMA mice and NCALD-ASO treatment in hiPSC-derived motor neurons show protective effects. Authors: Anixa Muiños-Bühl, Karen K Ling, Roman Rombo, Eleonora Zilio, Frank Rigo, C. Frank Bennett, Brunhilde Wirth *

       

       

      Activitate didactica:

      Lucrari impreuna cu studentii Facultății de Moașe și Asistență Medicală a Universității de Medicină și Farmacie „Carol Davila” din București în vederea realizării lucrărilor de licență

      1. Studiu privind eficiența tratamentului recuperator în scolioza idiopatică
      2. Traumatisme cranio-cerebrale - Metode clasice si moderne de diagnostic si tratament
      3. Terapia complexa a scoliozelor structurale idiopatice ale adolescentilor
      4. Managementul recuperator al pacientului cu traumatism vertebro-medular
      5. Tehnici moderne de recuperare în tetrapareza spastică
      6. Intervenții terapeutice în recuperarea copilului cu microcefalie
      7. Recuperarea mersului la pacienții cu platfus
      8. Metode moderne de recuperare a pacienților cu distrofie musculară
      9. Recuperarea respiratorie a copiilor cu amiotrofie spinală
      10. Tratamentul recuperator al pacientului cu PC spastică hemiplegică

       

      Prezentare de cazuri clinice si realizarea de lucrari stiintifice (articole, prezentari) alaturi de rezidenti de genetica medicala si recuperare medicala si de studenti ai Facultatii de Moase si Asistenta Medicala