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1.
Acta Otorhinolaryngol Ital ; 43(3): 212-220, 2023 Jun.
Article in English | MEDLINE | ID: mdl-37204846

ABSTRACT

Objective: Vestibular schwannoma surgery leads to acute unilateral vestibular loss. In some patients, however, the process of post-operatively initiated central compensation proceeds more rapidly than in others. This study aimed to evaluate post-operative vestibular function and correlate it with morphological findings of MRI scans. Methods: The study included 29 patients who underwent surgery for vestibular schwannoma. Vestibular function was analysed post-operatively by video head impulse test (vHIT). Subjective symptoms were evaluated using validated questionnaires. All patients underwent MRI 3 months post-operatively, and the presence of the facial and vestibulocochlear nerves in the internal auditory canal was assessed. Results: The vestibulo-ocular reflex gain measured by the vHIT correlated positively with audiological findings. Subjective perception of vestibular disorder did not correlate with objectively measured vestibular impairment or with MRI findings. Conclusions: After the resection of vestibular schwannoma, some patients may still have preserved vestibular function as measured by vHIT. The preserved function does not correlate with subjective symptoms. Patients with partially deteriorated vestibular function showed lower sensitivity to combined stimuli.


Subject(s)
Neuroma, Acoustic , Vestibular Diseases , Vestibule, Labyrinth , Humans , Head Impulse Test , Reflex, Vestibulo-Ocular/physiology
2.
Cancers (Basel) ; 12(4)2020 03 26.
Article in English | MEDLINE | ID: mdl-32224897

ABSTRACT

Aberrant regulation of the cell cycle is a typical feature of all forms of cancer. In head and neck squamous cell carcinoma (HNSCC), it is often associated with the overexpression of cyclin D1 (CCND1). However, it remains unclear how CCND1 expression changes between tumor and normal tissues and whether human papillomavirus (HPV) affects differential CCND1 expression. Here, we evaluated the expression of D-type cyclins in a cohort of 94 HNSCC patients of which 82 were subjected to whole genome expression profiling of primary tumors and paired normal mucosa. Comparative analysis of paired samples showed that CCND1 was upregulated in 18% of HNSCC tumors. Counterintuitively, CCND1 was downregulated in 23% of carcinomas, more frequently in HPV-positive samples. There was no correlation between the change in D-type cyclin expression and patient survival. Intriguingly, among the tumors with downregulated CCND1, one-third showed an increase in cyclin D2 (CCND2) expression. On the other hand, one-third of tumors with upregulated CCND1 showed a decrease in CCND2. Collectively, we have shown that CCND1 was frequently downregulated in HNSCC tumors. Furthermore, regardless of the HPV status, our data suggested that a change in CCND1 expression was alleviated by a compensatory change in CCND2 expression.

3.
Eur Arch Otorhinolaryngol ; 276(12): 3353-3358, 2019 Dec.
Article in English | MEDLINE | ID: mdl-31552524

ABSTRACT

INTRODUCTION: Hearing loss is the most frequent sensory disorder and is genetically extremely heterogeneous. By far the most frequent cause of nonsyndromic autosomal recessive hearing loss (AR-NSHL) are biallelic pathogenic mutations in the GJB2 gene causing DFNB1. The worldwide search for the second most common type of AR-NSHL took almost two decades. Recently reported alterations (mostly deletions) of the STRC gene, also named DFNB16, seem to be the second most frequent cause of AR-NSHL. Genetic testing of STRC is very challenging due to the highly homologous pseudogene. Anecdotal evidence from single patients shows that STRC mutations have their typical audiological findings and patients usually have moderate hearing loss. The aim of this study is to discover if audiological findings in patients with biallelic pathogenic mutations affecting STRC have the characteristic features and shape of audiological curves and if there are genotype/phenotype correlations in relation to various types of STRC mutations. METHODS: Eleven hearing loss patients with pathogenic mutations on both alleles of the STRC gene were detected during routine genetic examination of AR-NSHL patients. Audiological examination consisted of pure tone audiometry, stapedial reflexes, tympanometry and otoacoustic emission tests. RESULTS: The threshold of pure tone average (PTA) was 46 dB and otoacoustic emissions were not detectable in these DFNB16 patients. All patients were without vestibular irritation or asymmetry. CONCLUSION: Moderate sensorineural hearing loss is typical for DFNB16-associated hearing loss and there are no significant differences in audiological phenotypes among different types of mutations affecting STRC.


Subject(s)
Deafness/genetics , Hearing Loss, Sensorineural/genetics , Intercellular Signaling Peptides and Proteins/genetics , Membrane Proteins/genetics , Adolescent , Adult , Alleles , Audiometry , Child , Connexins/genetics , Female , Genetic Association Studies , Hearing Loss, Sensorineural/diagnosis , Hearing Tests , Humans , Male , Mutation/genetics , Polymerase Chain Reaction , Polymorphism, Single Nucleotide/genetics , Sequence Deletion/genetics , Young Adult
4.
Cancers (Basel) ; 11(4)2019 Mar 28.
Article in English | MEDLINE | ID: mdl-30925774

ABSTRACT

Similarly to other types of malignant tumours, the incidence of head and neck cancer is increasing globally. It is frequently associated with smoking and alcohol abuse, and in a broader sense also with prolonged exposure to these factors during ageing. A higher incidence of tumours observed in younger populations without a history of alcohol and tobacco abuse may be due to HPV infection. Malignant tumours form an intricate ecosystem of cancer cells, fibroblasts, blood/lymphatic capillaries and infiltrating immune cells. This dynamic system, the tumour microenvironment, has a significant impact on the biological properties of cancer cells. The microenvironment participates in the control of local aggressiveness of cancer cells, their growth, and their consequent migration to lymph nodes and distant organs during metastatic spread. In cancers originating from squamous epithelium, a similarity was demonstrated between the cancer microenvironment and healing wounds. In this review, we focus on the specificity of the microenvironment of head and neck cancer with emphasis on the mechanism of intercellular crosstalk manipulation for potential therapeutic application.

5.
Cas Lek Cesk ; 158(6): 231-234, 2019.
Article in English | MEDLINE | ID: mdl-31931581

ABSTRACT

Ear pain, otalgia, can have many etiologies. Some of these conditions, e.g. impacted ear wax, can be solved easily directly in the outpatient office. On the other hand, inflammations and its complications can also endanger patients life. Situation is complicated due to secondary otalgia, when the source of pain is localized in another body region, e.g. oropharynx. Stubbing pain in the ear should be in this case perceived as a warning sign, because it could be caused by spread of primary disease to the parapharynx. Aim of this paper is to provide a summary of the most often causes of ear pain correlated with their typical clinical features, It should help to recognize serious conditions, which can endanger patient´s life.


Subject(s)
Diagnosis, Differential , Earache , Pain , Humans
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