A5072993642- Neurofibromatosis and Schwannoma Cases
- Meningioma and schwannoma management
- Ear Surgery and Otitis Media
- Salivary Gland Tumors Diagnosis and Treatment
- Vestibular and auditory disorders
- Facial Nerve Paralysis Treatment and Research
- Hearing, Cochlea, Tinnitus, Genetics
- Sarcoma Diagnosis and Treatment
- Bone Tumor Diagnosis and Treatments
- Ear and Head Tumors
- Soft tissue tumors and treatment
- Trigeminal Neuralgia and Treatments
- Chromatin Remodeling and Cancer
- Infectious Diseases and Tuberculosis
- Head and Neck Cancer Studies
- Head and Neck Surgical Oncology
- Neuroscience of respiration and sleep
- Reconstructive Facial Surgery Techniques
- Cancer Diagnosis and Treatment
- Soft tissue tumor case studies
- Neuroblastoma Research and Treatments
- Ocular Oncology and Treatments
- Oral and Maxillofacial Pathology
- Full-Duplex Wireless Communications
- Leprosy Research and Treatment
Hospital Universitari Germans Trias i Pujol
2020-2023
Universitat Autònoma de Barcelona
2021-2022
Institut Cartogràfic i Geològic de Catalunya
2022
Montavid Thermodynamic Research Group
2020
Hospital Municipal de Badalona
2015
USP Institut Universitari Dexeus
2011
Bellvitge University Hospital
1998-2001
Ajuntament de L’Hospitalet
2000
Cochlear implants (CIs) are a well-known hearing restoration option for patients with vestibular schwannoma (VS) in cases of neurofibromatosis type-2 and, more recently, sporadic VS. One the main limitations when performing CI during VS surgery is capability to preserve acoustic nerve (AN) anatomically and functionally. Significant efforts have been directed toward developing an intraoperative testing method monitoring AN function determine if, after tumor removal, it suitable conducting...
A clinical overlap exists between mosaic Neurofibromatosis Type 2 and sporadic Schwannomatosis conditions. In these cases a molecular analysis of tumors is recommended for proper genetic diagnostics. This challenged by the fact that schwannomas in both conditions bear somatic double inactivation NF2 gene. However, SMARCB1-associated follow four-hit, three-step model, which alleles SMARCB1 genes are inactivated tumor, with one steps being always loss big part chromosome 22 involving loci.Here...
Abstract Purpose The study assesses whether pre- and intraoperative factors linked to electromyography direct electrical stimulation (DES) of facial nerve can predict function in the short- (12 days) long-term (1 year) after cerebellopontine angle (CPA) tumor resection. Methods 157 patients who underwent surgical resection CPA tumors with monitoring. Pre-operative (age, size, pure tone average), time intra-operative parameters regarding function, minimum threshold (MST), compound muscle...
Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors nervous system. An early diagnosis individuals with NF2 would facilitate treatment and reduction disease impact because most severe effects do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen patients NF2, normally appearing either at birth or childhood, providing an...
Hair cell (HC) loss by epithelial extrusion has been described to occur in the rodent vestibular system during chronic 3,3'-iminodipropionitrile (IDPN) ototoxicity. This is preceded dismantlement of calyceal junction contact between type I HC (HCI) and calyx afferent terminals. Here, we evaluated whether these phenomena have wider significance. First, studied rats receiving seven different doses streptomycin, ranging from 100 800 mg/kg/day, for 3-8 weeks. Streptomycin caused function...
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder characterised by the development of multiple schwannomas, especially on vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) useful to predict progression disease from germline pathogenic variants, which allows clinical follow-up genetic counselling offered affected families be optimised.52 Spanish patients were classified using GSS, patients' severity was measured compared between GSS groups. reviewed...
Bilateral facial nerve palsy is relatively uncommon and may occur in association with a variety of neurological, infectious, neoplastic or degenerative disorders. Presentation made 4 cases bilateral diplegia due to refractory anemia excess blasts, Lyme disease tuberculoid leprosy. In one these patients the cause seventh-nerve was unknown (Bell’s palsy). Facial returned normal after treatment steroids 3 patients. The patient myelodysplastic syndrome did not show any improvement died 6 months...
Cruz Toro, Paula; Domenech, Ivan; Clemente, Ignacio; Farré, Anna; Amilibia, Emili Author Information
ABSTRACT Hair cell (HC) loss by epithelial extrusion has been described to occur in the rodent vestibular system during chronic 3,3’-iminodipropionitrile (IDPN) ototoxicity. This is preceded dismantlement of calyceal junction contact between type I HC (HCI) and calyx afferent terminals. Here, we evaluated whether these phenomena have wider significance. First, studied rats receiving streptomycin for 3 8 weeks. Streptomycin caused function associated with partial HCI decreased expression...
Objectives: To study computed tomography findings in Paget's disease of temporal bone (PDTB) and analyze the relations between otic capsule mineral density values measured Hounsfield Units (HU) hearing loss (HL). Study Design: Observational case-control study. Setting: Tertiary referral center. Patients: Radiographically confirmed PDTB cases control group. Intervention: Diagnostic. Main Outcome Measures: Hearing thresholds values. Results: Twenty-three ears case group 27 were included. In...
Abstract Background Neurofibromatosis Type 2 (NF2) is an autosomal dominant disorder characterized by the development of multiple schwannomas, particularly at vestibular nerves, and meningiomas. The UK NF2 Genetic Severity Score (GSS) helps predicting disease course from germline pathogenic variants, optimizing clinical follow-up genetic counselling offered to affected families. Methods Spanish Reference Center patients were classified following GSS patients’ severity was measured compared...
ABSTRACT NF2-related schwannomatosis is an autosomal dominant syndrome that predisposes to the development of benign tumors nervous system. Schwannomas, particularly bilateral vestibular schwannomas (VS), are most characteristic features disease. These caused by bi-allelic inactivation NF2 gene in a cell Schwann lineage. Our current understanding molecular pathogenesis gene, as well new effective therapies hampered absence human non-perishable cell-based bearing distinct pathogenic variants....