Vestibular sensorial input is essential for psychomotor development of the very small children. In consequence, possible vestibular impairment induced by cochlear implantation in deaf children could affect the balance and walking learning process. Some of cochlear implanted children can present congenital vestibular deficit. The anatomical and embryological relation between auditory and vestibular system explains why congenital neurosensorial hearing loss may associate vestibular impairment. The cochlear implant surgery presents a vestibular lesion risk. Bilateral vestibulopathy, as it appears in early childhood, has a poor prognosis for the psychomotor and cognitive development. Even probably rare, bilateral vestibulopathy induced by simultaneous bilateral cochlear implantation can delay the acquisition of motor skills. This pathology can be avoided by an appropriate surgical indication related to the vestibular preoperative status. This study reports the vestibular saccular functional modifications after the cochlear implantation in children. The cervical vestibular evoked myogenic potentials (cVEMPs) were performed in children before and after the cochlear implantation. Since previous studies report different vestibular impairment related to the portelectrode insertion approach, another objective of our study was to assess the saccular postoperative status depending of the insertion by cochleostomy (CO) or through the round window (RW). We performed cVEMPs for 80 patients (135 cochlear implanted ears) before and after cochlear implantation. We have detected preoperative saccular areflexia in 33 (24.4%) ears. In the group of 102 (75.6%) ears with preoperative normal saccular function, 72 (70.6%) ears preserved the cVEMP response after the surgery, while in 30 (29.4%) ears the cVEMP response was lost. Reporting our findings to the portelectrode insertion method, we found normal saccular function in 73.3% of the cochlear implanted ears by RW surgical approach and in 68.42% ears by CO approach. These results suggest that the RW portelectrode insertion is the recommended strategy in order to avoid the saccular vestibular impairment.
Background: We have investigated the main genetic causes for non-syndromic hearing impairment (NSHI) in the hearing impairment individuals from the North-Eastern Romania and proposed a cost-effective diagnosis protocol. Methods: MLPA followed by Sanger Sequencing were used for all 291 patients included in this study. Results: MLPA revealed abnormal results in 141 cases (48.45%): 57 (40.5%) were c.35delG homozygous, 26 (18.44%) were c.35delG heterozygous, 14 (9.93%) were compound heterozygous and 16 (11.35%) had other types of variants. The entire coding region of GJB2 was sequenced and out of 150 patients with normal results at MLPA, 29.33% had abnormal results: variants in heterozygous state: c.71G>A (28%), c.457G>A (20%), c.269T>C (12%), c.109G>A (12%), c.100A>T (12%), c.551G>C (8%). Out of 26 patients with c.35delG in heterozygous state, 38.46% were in fact compound heterozygous. Conclusions: We identified two variants: c.109G>A and c.100A>T that have not been reported in any study from Romania. MLPA is an inexpensive, rapid and reliable technique that could be a cost-effective diagnosis method, useful for patients with hearing impairment. It can be adaptable for the mutation spectrum in every population and followed by Sanger sequencing can provide a genetic diagnosis for patients with different degrees of hearing impairment.
Malignant laryngeal tumor occupies an important place among ENT malignancies, representing 26% of head and neck cancers. The control of the disease and especially the quality of life are parameters often overlooked. The term "quality of life", has social impact too. The aim of this retrospective, observational study, is to evaluate the quality of life of patients with laryngeal tumors and the social impact in patients after the radiotherapy or radiochemotherapy. The group of study included 52 patients, diagnosed with histopathologically confirmed laryngeal tumors. The evaluation of the quality of life was done before and after surgery and during the radiotherapy and chemotherapy, weekly, for 8 weeks. The tools used to assess the quality of life, were the questionnaires EORTC QLQ-30 version 3.0, and EORTC QLQ 35. EORTC QLQ-30 version 3.0 showed a low score on scales such fatigue, pain and sleep problems, from the beginning of therapy. The symptoms that appeared during the treatment, with statistical significance were: fatigue, nausea / vomiting, pain and appetite problems. EORTC QLQ-35 signals from the beginning of therapy problems with the senses, voice, social life, cough, which increase in severity as the radiation dose increases. At the end of treatment, pain scales, senses, social life and dry mouth were affected. In conclusion, the patients with laryngeal tumors present an important degradation of the quality of life and social integration after the treatment and radiotherapy or chemoradiotherapy, situation that we must take into account in the therapeutic plan.
Multicentric reticulohistiocytosis (MRH) is a rare cause of destructive inflammatory arthritis involving both small, as well as larger joints. We report the case of a 40-year-old Caucasian female with a family history of neoplasia who was referred to our service witha two-month history of inflammatory joint pain. On examination, the patient had inflammatory arthritis, mainly involving the peripheral joints, sacroiliac joint pain, and numerous papulonodular mucocutaneous lesions, including periungual “coral beads”. Imaging tests revealed erosive arthritis with synovitis and tenosynovitis, sacroiliac joint changes, as well as papulonodular mucosal lesions in the nasal vestibule, the oropharyngeal mucosa, and supraglottic larynx. She tested positive for HLA-B*07 (Human Leukocyte Antigen B*07) and HLA-B*08, ANA (antinuclear antibodies), RF (rheumatoid factor), anti-Ro52, anti-SSA/Ro, and anti-SSB/La antibodies. The skin biopsy was suggestive of MRH, showing a histiocyte infiltrate and frequent giant multinucleated cells. The patient exhibited favorable outcomes under Methotrexate, then Leflunomide. However, she displayed worsening clinical symptoms while under Azathioprine. To our knowledge, this is the first case of MRH to exhibit positive HLA-B*07 together with HLA-B*08. The rarity of MRH, its unknown etiology and polymorphic clinical presentation, as well as its potential neoplastic/paraneoplastic, and autoimmune nature demand extensive investigation.
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