THE INFLUENCE OF PHYSICAL REHABILITATION AND PHYSICAL ACTIVITY ON THE QUALITY OF LIFE OF BILATERALLY DEAF PATIENT WITH A DIAGNOSIS OF TYPE 2 NEUROFIBROMATOSIS-CASE STUDY

This work describes the case of a 20- year-old woman with neurofibromatosis type II (NF-2). The patient was diagnosed when she was just 15. The symptoms and the course of rare genetically autosomal dominant disease which is conditioned by the mutations of NF2 gene encoding merlin protein and located on chromosome 22q12.2 ,were elaborated. Scales such as: Katz (ADL), Lawton (IADL), Barthel , Tinetti, "get-up and go", tests were used in functional evaluation and patient's physical function which is very important in the diagnosis and the course of improving functionality. The purpose of this work is to present how rehabilitation and physical activity influence psychophysical health and help in everyday life activities of the patient who is deaf in both ears after tumor surgery in right and left Cerebellopontine angle area and after the surgery of two meningiomas of left sylvian fissure, Vitelliform macular d y s t r o p h y ( B e s t ' s d i s e a s e ) , t h e peripheral paresis of the right facial nerve and existing multilevel intradural tumors in spinal canal, intraspinal and e x t r a s p i n a l t u m o r s w i t h t h e morphologic features of meningiomas, neurilemmomas, ependymo mas, t u m o r s w i t h t h e f e a t u r e s o f meningiomas above left Cerebral hemisphere and along Cerebral falx. Moreover, the patient was diagnosed with tumors with the morphologic features of meningiomas in the right internal juguval vein hole, left accessory p a r o t i d g l a n d a n d a f e w s m a l l meningiomas below the left internal juguval vein hole and also in left parapharyngeal space after the insertion of cochlear implant on the right side and after hypothyroidism, it was given to the patient who reads lips, communicates mostly by text messages and slowly tries to incorporate sign language. Examples of rehabilitation exercises were presented, as well as how the patient uses physical activity despite bilateral deafness, numerous tumors and surgeries.

Targeting the cMET pathway augments radiation response without adverse effect on hearing in NF2 schwannoma models

Neurofibromatosis type II (NF2) is a disease that needs new solutions. Vestibular schwannoma (VS) growth causes progressive hearing loss, and the standard treatment, including surgery and radiotherapy, can further damage the nerve. There is an urgent need to identify an adjunct therapy that, by enhancing the efficacy of radiation, can help lower the radiation dose and preserve hearing. The mechanisms underlying deafness in NF2 are still unclear. One of the major limitations in studying tumor-induced hearing loss is the lack of mouse models that allow hearing testing. Here, we developed a cerebellopontine angle (CPA) schwannoma model that faithfully recapitulates the tumor-induced hearing loss. Using this model, we discovered that cMET blockade by crizotinib (CRZ) enhanced schwannoma radiosensitivity by enhancing DNA damage, and CRZ treatment combined with low-dose radiation was as effective as high-dose radiation. CRZ treatment had no adverse effect on hearing; however, it did not affect tumor-induced hearing loss, presumably because cMET blockade did not change tumor hepatocyte growth factor (HGF) levels. This cMET gene knockdown study independently confirmed the role of the cMET pathway in mediating the effect of CRZ. Furthermore, we evaluated the translational potential of cMET blockade in human schwannomas. We found that human NF2-associated and sporadic VSs showed significantly elevated HGF expression and cMET activation compared with normal nerves, which correlated with tumor growth and cyst formation. Using organoid brain slice culture, cMET blockade inhibited the growth of patient-derived schwannomas. Our findings provide the rationale and necessary data for the clinical translation of combined cMET blockade with radiation therapy in patients with NF2.