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Etiological diagnosis of infant hearing loss (HL) is important for the prevention, effective management and the prognosis of this impairment. Objective: The aim of this study is to determine the etiology of hearing loss detected in children from southern Brazil. Methods: A prospective cross-sectional study of 166 children from 0 to 12 years old, with mild to profound HL. Detailed family and medical history were obtained; diagnostics tests were carried out; mutations frequently associated with HL were analyzed: the mutation c.35delG in GJB2 and deletions del(GJB6-D13S1830) and del(GJB6- D13S1854) in GJB6. Results: The HL is caused by perinatal events in 28,9% cases, congenital infections in 3,6% cases, genetic syndromes in 10,8% cases, genetics non-syndromic mutations in 9,0% cases (5,23% 35delG/GJB2 homozygous, 3,03% 35delG/ GJB2 heterozygous and 0,71% del(GJB6-D13S1830), auditory neuropathy in 3,0% cases, unknown in 38% of the cases and more than one factor were observed in 6,0% cases. Conclusion: Through the implementation of genetic tests for the most common mutations, it is possible to decrease the percentage of patients with no definite cause for hearing loss. Our results are similar to those observed in other publications. [ABSTRACT FROM AUTHOR]

To explore temporal dynamics of cerebral herniation through the calvarial defect after decompressive craniectomy. To investigate patterns of hemispheric asymmetry in ischemic stroke and traumatic brain injury after decompressive craniectomy.To assess clinical implications of hemispheric asymmetry evaluation in order to minimize cranioplasty complications. Using a CT semiautomatic segmentation system, the ipsilateral and contralateral hemispheric areas of patients who underwent decompressive craniectomy for malignant ischemic stroke and traumatic brain injury were measured during the acute (1-7 days), subacute (8-21 days) and chronic (over 21 days) periods. Difference between the two hemispheric areas, called hemispheric asymmetry, has been investigated. Of the 53 patients, 38 (71.7%) had a malignant ischemic stroke, and 15 (28.3%) had a severe head brain injury. In stroke, a significant increase in hemispheric asymmetry was found during acute and subacute phases (+ 6.7 ± 5.1 cm 2 and + 7.5 ± 7.2 cm 2, respectively; p = 0.002, p = 0.01). An increased hemispheric asymmetry at the time of cranioplasty was associated with a greater risk of complications (p = 0.01). Ischemic stroke and traumatic brain injury exhibit different patterns of brain herniation through the calvarial defect after decompressive craniectomy. There is a greater amount of hemispheric asymmetry in stroke than in trauma, with a peak that is reached during the subacute phases. To minimize cranioplasty complications, it is advisable to wait for the rebalancing of the hemispheric asymmetry., Competing Interests: Declarations. Ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Competing interests: The authors declare no competing interests., (© 2025. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)

Purpose: To adequately manage oral anticancer agents (OAAs) therapy, appropriate self-care behaviours must be implemented. Informal caregivers could support and contribute to patient self-care. This study aimed to explore and describe the caregiver contribution to self-care and their related experience of caring among informal caregivers of patients on OAAs., Methods: Qualitative descriptive design. We conducted semi-structured interviews, which were transcribed, read in depth, and analysed with deductive and inductive content analysis, according to Mayring. Adult informal caregivers (>18 years) of elderly patients (>65 years) with solid malignancies undergoing OAAs therapy for at least 3 months were included., Findings: Twenty-three caregivers were interviewed with mean age of 57,2 (SD ± 15,8). A total of 18 codes from the qualitative content analysis were found, of which ten were referred to caregiver contribution and classified into the three dimensions of self-care maintenance (i.e. behaviours to maintain illness stable), self-care monitoring (i.e., tracking symptoms and side effects), and self-care management (i.e., management of worsening symptoms), according to the Middle Range Theory of Self-Care of Chronic Illnesses. The eight codes on caregiver experience were aggregated into two main themes: negative aspects (i.e., burden, emotional state, self-denial, social isolation) and positive aspects of caregiving., Conclusion: Healthcare professionals should consider the importance of caregiver role in supporting their loved one treated with OAAs, also taking into account their needs to prevent burdensome situations. A holistic view in which a patient-centred approach is established should be encouraged through the communication and education of the dyad., Competing Interests: Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2023 Elsevier Ltd. All rights reserved.)

Introduction: Individuals with chronic respiratory diseases and caregivers are at higher risk for depression and anxiety. Primary ciliary dyskinesia (PCD) and cystic fibrosis (CF) are both rare genetic diseases, characterized by recurrent respiratory infections. This study compared depression and anxiety in people with PCD (pwPCD) and CF (pwCF), and caregivers, using the screening tools recommended in the CF guidelines., Methods: Patient Health Questionnaire (PHQ-9) and Generalized Anxiety Disorder (GAD-7) were administered to a PCD and CF sample. Given that PCD is extremely rare, they were matched on age and sex to pwCF at a 1:2 ratio. Similar procedures were performed with parents., Results: A total of 63 patients and 129 caregivers participated: 21 pwPCD and 42 pwCF (ages 12-34 years) plus 43 caregivers of pwPCD and 86 caregivers of pwCF. A high percentage of patients scored above the cut-off for depression (PCD: 33%; CF: 43%) and anxiety (PCD and CF both: 43%), mostly mild. Similarly, a high percentage of caregivers scored above the cut-off for depression (PCD: 42-54%; CF: 45-46%) and anxiety (PCD: 47-54%; CF: 39-56%). Suicidal ideation was endorsed by 9.5% of pwPCD, 20% of mothers and 10% of fathers and 5% of pwCF, 3% of mothers, but no fathers., Conclusion: A large percentage of patients and caregivers reported elevated psychological distress and suicidal ideation. Addressing psychological symptoms is critical given they are associated with poor adherence, missed clinic visits, increased inflammation and worse quality of life. Mental health screening and treatment should be integrated into PCD care., Competing Interests: Declaration of competing interest There are no conflicts of interest., (Copyright © 2022 Elsevier Ltd. All rights reserved.)

Introduction: Hearing loss etiology depends on the population studied as well as on the ethnicity and the socio-economic condition of the analyzed region. Etiological diagnosis contributes to the improvement of preventive measures and to the early identification of this deficiency., Objective: To identify the etiological factors of hearing loss and its prevalence in a tertiary hospital in southern Brazil, to verify the frequency of mutations in GJB2 and GJB6 genes, and to correlate the degree of hearing loss with the etiological factors of deafness., Methods: This prevalence study involved 140 children with bilateral sensorineural or mixed hearing loss. Medical history, physical examination, audiometry, and evoked auditory brainstem response were conducted. Imaging and genetic examinations were also performed., Results: Etiologies and their prevalence were as follows: (a) indeterminate causes, 31.4%; (b) conditions related to neonatal period, 22.1%; (c) genetic, 22.1%; (d) auditory neuropathy, 10%; (e) other factors (cortical malformation, intracranial hemorrhage, and internal ear malformations), 7.9% and (f) congenital infections, 6.4%. Within the genetic cases, ten homozygous and seven heterozygotes of the 35delG mutation were identified, besides two cases of rare variants of GJB2: p.Try172* and p.Arg184Pro. One case with homozygosis of del(GJB6-D13S1830) was found. Regarding severity of hearing loss, in 78.6% of the cases the degree of hearing loss was profound and there were no significant differences when comparing between etiologies., Conclusion: The number of indeterminate etiologies is still high and congenital CMV infection may be a possible cause of undiagnosed etiology for hearing loss. The predominance of etiologies related to neonatal conditions and infectious causes are characteristic of developing countries. The most prevalent mutation was 35delG, the main GJB2 gene, probably because of the European influence in the genotype of our population., (Copyright © 2021 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)

Introduction: Preschool wheezers are at high risk of recurrent attacks triggered by respiratory viruses, sometimes exacerbated by exposure to allergens and pollution. Because of the COVID-19 infection, the lockdown was introduced, but the effects on preschool wheezers are unknown. We hypothesized that there would be an improvement in outcomes during the lockdown, and these would be lost when the lockdown was eased., Materials and Methods: Patients underwent medical visits before and after the COVID-19 lockdown. We recorded the childhood Asthma Control Test (cACT) and a clinical questionnaire. Data on symptoms, the need for medications and the use of healthcare resources were recorded. We compared these data with retrospective reports from the preceding year and prospectively acquired questionnaires after lockdown., Results: We studied 85 preschool wheezers, mean age 4.9 years. During the lockdown, cACT score was significantly higher (median 25 vs. 23); families reported a dramatic drop in wheezing episodes (51 vs. none), significant reductions in the day and nighttime symptoms, including episodes of shortness of breath (p < .0001); the use of salbutamol and oral corticosteroids (OCS) dropped significantly (p < .0001) and 79 (95%) patients needed no OCS bursts during the lockdown. Finally, patients had significantly fewer extra medical examinations, as well as fewer Emergency Room visits (p < .0001). All were improved compared with the same time period from the previous year, but outcomes worsened significantly again after lockdown (cACT median: 22)., Conclusions: During the national lockdown, children with persistent preschool wheeze showed a significant clinical improvement with reduction of respiratory symptoms, medication use for exacerbations, and use of healthcare resources. This trend reversed when lockdown restrictions were eased., (© 2021 Wiley Periodicals LLC.)

Introduction: The diagnosis of Eustachian tube dysfunctions is essential for better understanding of the pathogenesis of chronic otitis media. A series of tests to assess tube function are described in the literature; however, they are methodologically heterogeneous, with differences ranging from application protocols to standardization of tests and their results., Objective: To evaluate the variation in middle ear pressure in patients with tympanic membrane retraction and in normal patients during tube function tests, as well as to evaluate intra-individual variation between these tests., Methods: An observational, contemporary, cross-sectional study was conducted, in which the factor under study was the variation in middle ear pressure during tube function tests (Valsalva maneuver, sniff test, Toynbee maneuver) in healthy patients and in patients with mild and moderate/severe tympanic retraction. A total of 38 patients (76 ears) were included in the study. Patients underwent tube function tests at two different time points to determine pressure measurements after each maneuver. Statistical analysis was performed using SPSS software, version 18.0, considering p-values <0.05 as statistically significant., Results: Mean (standard deviation) age was 11 (2.72) years; 55.3% of patients were male and 44.7% female. The prevalence of type A tympanogram was higher among participants with healthy ears and those with mild retraction, whereas type C tympanograms were more frequent in the moderate/severe retraction group. An increase in middle ear pressure was observed during the Valsalva maneuver at the first time point evaluated in all three groups of ears (p=0.012). The variation in pressure was not significant either for the sniff test or for the Toynbee maneuver at the two time points evaluated (p≥0.05). Agreement between measurements obtained at the two different time points was weak to moderate for all tests in all three groups of ears, and the variations in discrepancy between measurements were higher in ears with moderate/severe tympanic retraction., Conclusion: In this study population, the mean pressure in the middle ear showed significant variation only during the Valsalva maneuver at the first time point evaluated in the three groups of ears. Normal ears and those with mild retraction behaved similarly in all tests. The tested maneuvers exhibited weak to moderate intra-individual variation, with the greatest variation occurring in ears with moderate/severe retraction., (Copyright © 2016 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.)