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Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNA Ser(UCN) gene in order to assess their frequency in the ethnically admixed Brazilian population. We found four individuals with A1555G mutation (2%), which is a frequency similar to those reported for European-derived populations in unselected samples. On the other hand, complete sequencing of the tRNA Ser(UCN) did not reveal reported pathogenic substitutions, namely A7445G, 7472insC, T7510C, or T7511C. Instead, other rare substitutions were found such as T1291C, A7569G, and G7444A. To evaluate the significance of these findings, 110 "European-Brazilians" and 190 "African-Brazilians" unrelated hearing controls were screened. The T1291C, A7569G and G7444A substitutions were each found in about 1% (2/190) of individuals of African ancestry, suggesting that they are probably polymorphic. Our results indicate that screening for the A1555G mutation is recommended among all Brazilian deaf patients, while testing for mutations in the tRNA Ser(UCN) gene should be considered only when other frequent deafness-causing mutations have been excluded or in the presence of a maternal transmission pattern.

Voice disorders are common among teachers and, in particular, anatomy teachers are exposed to a potential enemy for dysphonia, irritating chemicals, that is, formaldehyde. We seek to verify the association between: (1) teaching time, (2) type of cadaveric conservation to which the teacher is exposed and (3) hours of exposure to cadaveric preservative related to the different categories of voice disorders screening (ITDV). The sample consisted of 111 teachers who answered to 02 data collection instruments: I - Sociodemographic Data; II - ITDV. Among participating teachers there were 71 male and 40 female, with an average age of 43 years and 11 months and an average teaching time of 16 years and 5 months. Association tests between teaching time and ITDV demonstrate a significant result in the relationship between voice failure and teaching time (p<0.05). All 111 teachers use their voices in laboratory classes and use cadaveric material. From those, 107 teachers are exposed to formaldehyde as cadaveric parts' conservative solution. There was a significant association (p<0.05) between voice failure and the type of cadaveric conservative solution but non-significant relationship (p>0.05) between ITDV and the time of exposure to formaldehyde preservative. Teachers' ITDV showed vocal signs and symptoms. In particular, voice loss due to time of teaching in anatomy, and voice failure, due to exposure to formaldehyde and combinations used in anatomical parts and cadavers, were significant., (Copyright © 2023 Elsevier Masson SAS. All rights reserved.)

Introduction: Reading is a highly refined skill that encompasses two main components: decoding graphic symbols and understanding the written message. These aspects generally develop together, but reading comprehension is a much more complex process, sustained not only by the identification of written words and vocabulary but also by language systems, such as syntax and general knowledge. Although there is a well-established technique for performing the phoniatric assessment, there is no common use of tests that assess reading comprehension or the association of this information with other assessment data., Objective: The objective of this study is, in the context of the phoniatric consultation, to evaluate the reading and retelling in children with relevant reading difficulties and to correlate the decoding and comprehension problems with the alterations observed in auditory and visual perceptual tests, pointing out the evidence that best contributed to the differential diagnosis of these subjects., Methods: Starting from a population of 301 children enrolled in the 4th and 5th grades of elementary school, 13 children with evident reading and writing difficulties were evaluated regarding the reading and retelling tasks and separated into groups according to the problem of decoding, fluency, and comprehension. Reading performance was correlated with the performance in visual and auditory perceptual tests and based on the similarity analysis, the tests considered to be the most relevant in the diagnosis process of these children were identified., Result: The results suggest that the tasks: naming of figures, repetition of numbers in reverse order, figure copying, syllabic synthesis, phonemic synthesis, rhyme, and phonemic manipulation altogether contribute to diagnosis and multidisciplinary intervention aspects., Conclusion: Some tasks are more relevant to the diagnostic process of children with complaints of learning difficulties in reading., (Copyright © 2021 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)

Introduction  Feeding, swallowing and breathing are fundamental activities for the survival and well-being of humans; these functions are performed by the most complex neuromuscular unit of the human body, which, when altered, may raise morbidity and mortality rates. Objective  To evaluate deglutition in patients with mental disability in order to determine the incidence and the severity of dysphagia. Methods  A total of 189 institutionalized adult patients with mental disability were analyzed using a 3.2 mm flexible fiberscope (Machida, Japan 1995). The following food consistencies were tested: pasty, thickened liquid and liquid. Results  Among the total of 189 patients, 101 (53.4%) were female aged between 14 and 55 years old. Most of them 120 (63.5%) had profound mental deficiency, 58 (30.7%) had severe mental deficiency, 9 (4.8%) had moderate mental deficiency, and 2 (1.1%) had mild mental deficiency. Gender and the degree of mental deficiency did not influence significantly the degree of dysphagia. Age, degree of disability and interaction between age groups and degrees of disability influenced significantly the degree of dysphagia. Younger patients are more likely to present more severe dysphagia. Stabilization occurs between 31 and 40 years of age, and above this age, a greater chance of less severe dysphagia, because the increase in the degree of mental deficiency decreases the probability of more severe dysphagia. Conclusion  The population that mostly presented severe dysphagia was characterized by being mostly female, with profound mental deficiency, with an average age of 36.7 years. There was no relationship between gender and the degree of mental disability concerning the degree of dysphagia.

Whole-exome sequencing of samples from affected members of two unrelated families with late-onset non-syndromic hearing loss revealed a novel mutation (c.2090 T > G; NM&#95;017433) in MYO3A. The mutation was confirmed in 36 affected individuals, showing autosomal dominant inheritance. The mutation alters a single residue (L697W or p.Leu697Trp) in the motor domain of the stereocilia protein MYO3A, leading to a reduction in ATPase activity, motility, and an increase in actin affinity. MYO3A-L697W showed reduced filopodial actin protrusion initiation in COS7 cells, and a predominant tipward accumulation at filopodia and stereocilia when coexpressed with wild-type MYO3A and espin-1, an actin-regulatory MYO3A cargo. The combined higher actin affinity and duty ratio of the mutant myosin cause increased retention time at stereocilia tips, resulting in the displacement of the wild-type MYO3A protein, which may impact cargo transport, stereocilia length, and mechanotransduction. The dominant negative effect of the altered myosin function explains the dominant inheritance of deafness.

We hereby report on the audiological and genetic findings in individuals from a Brazilian family, with the following mitochondrial mutation A1555G in the 12SrRNA gene (MT-RNR-1). Nine individuals underwent speech, audiologic (tonal audiometry and logoaudiometry) and genetic evaluations. Eight individuals among the A1555G carriers were affected by hearing impairment and one person had normal hearing thresholds till the end of the present study. The audiologic evaluation results indicated normal hearing thresholds all the way to bilateral profound hearing loss with post-lingual onset and variable configuration. Two affected siblings presented progressive hearing loss. It was impossible to precise the time of hearing loss onset; however, the impairment was present in both children and adults. The genetic study revealed the A1555G mitochondrial mutation in the 12SrRNA gene. Given the prevalence of mitochondrial mutations as a cause of hearing loss, it is fundamental to perform the etiopathologic diagnosis in order to postpone the onset or avoid hearing impairment progression. This kind of hearing impairment represents a challenge to the professionals since there are no physical traits that indicate genetic transmission.

Mitochondrial mutations are responsible for at least 1% of the cases of hereditary deafness, but the contribution of each mutation has not yet been defined in African-derived or native American genetic backgrounds. A total of 203 unselected hearing-impaired patients were screened for the presence of the mitochondrial mutation A1555G in the 12S rRNA gene and mutations in the tRNASer(UCN) gene in order to assess their frequency in the ethnically admixed Brazilian population. We found four individuals with A1555G mutation (2%), which is a frequency similar to those reported for European-derived populations in unselected samples. On the other hand, complete sequencing of the tRNASer(UCN) did not reveal reported pathogenic substitutions, namely A7445G, 7472insC, T7510C, or T7511C. Instead, other rare substitutions were found such as T1291C, A7569G, and G7444A. To evaluate the significance of these findings, 110 "European-Brazilians" and 190 "African-Brazilians" unrelated hearing controls were screened. The T1291C, A7569G and G7444A substitutions were each found in about 1% (2/190) of individuals of African ancestry, suggesting that they are probably polymorphic. Our results indicate that screening for the A1555G mutation is recommended among all Brazilian deaf patients, while testing for mutations in the tRNASer(UCN) gene should be considered only when other frequent deafness-causing mutations have been excluded or in the presence of a maternal transmission pattern.

There are several controversial aspects to the management of traumatic facial paralysis. One of these involves the precise nature of surgical intervention once the decision to operate has been made. Between June 1, 1984, and June 30, 1993, we surgically treated 220 cases of traumatic facial paralysis with good cochlear reserve by decompressing the tympanic and mastoid segments via a transmastoid approach followed by decompression of the geniculate ganglion and the distal half of the labyrinthine segment via a middle fossa approach. We discuss the results of surgery via the middle fossa approach, and we review the literature.

Background: Clinical rehabilitation of peripheral facial paralysis (PFP)., Aim: To delineate the contributions of myofunctional exercises during the flaccid phase of the disorder, before any sequelae., Method: 147 promptuaries of patients with facial paralysis were analyzed and divided in two groups according to the period in which rehabilitation began. For the analysis of development, the classifications proposed by House and Brackmann (1985) and Ross et al. (1994) were used., Results: According to the classification of House and Brackmann (1985), all of the individuals who had sequelae reached level III. However, it was observed that even in cases of severe nerve lesion, cases in which the sequelae were non-acceptable, patients who started treatment at an early stage, revealed a better functional result when evaluated according to the classification of Ross et al. (1994)., Conclusion: The myofunctional approach demonstrated to be an effective method for the functional reestablishment in cases of facial paralysis.

Psammomatoid ossifying fibroma (POF) represents a unique subtype of fibro-osseous lesions. We describe a case of POF involving the orbit and the sinonasal tract, in a 13-year-old white female. Diagnosis depends on the histological, radiological and clinical features. Complete excision by endoscopic nasal surgery was the treatment of choice. Five years later the patient was free from symptoms and tumour recurrence. Differential diagnoses are discussed.

Since 1989, we have identified 25 patients with Lyme disease, 15 in early and 10 in latent stage, supporting its existence in Brazil, according to following reasons: 1) presence of clinical manifestations compatible with Lyme disease, with cutaneous, articular, nervous system and rarely cardiac envolvement; 2) presence of antibodies against Borrelia burgdorferi; 3) follow up of acute cases show sorologycal changes; 4) good antibiotic response at early stage of disease and only satisfactory in latent form; 5) mapping of risk areas, according to geographycal distribution of patients; 6) presence and identification of Ixodid ticks; 7) identification of micro-organism like borrelias in human, wild animals and ticks cultures, seen by dark field microscope; 8) sorology done in dogs and oxes, confirm existence of risk areas for Lyme disease.