Italian validation of the Penn Acoustic Neuroma Quality of Life Scale (PANQOL-It)

Objective: translate and validate the Penn Acoustic Neuroma Quality of Life Scale into Italian language (PANQOL-It). Methods: the instrument was translated and psychometric properties were subsequently assessed by administering the PANQOL-It to 124 outpatients together with the Depression Anxiety Stress Scale (DASS21) and the Understanding and Communicating domain of the World Health Organization Disability Assessment Schedule II (WHODAS II-D1). The internal consistency, test-retest reliability, construct and criterion-related validity were assessed. Results: Cronbach's alpha coefficient was 0.92 for the total score and ranged from 0.44 to 0.90 in the seven domains. Significant test-retest reliability was observed (intraclass-correlation = 0.75; p < 0.01). Moderate correlation was reported between facial dysfunction domain and objective facial involvement (p < 0.01). Moderate to strong correlations were observed between anxiety, general health domains and all subscales of the DASS21, and between WHODAS II-D1 and general health and energy domains (p < 0.01). These latter results indicated good construct and criterion-related validity respectively. Conclusions: PANQOL-It presented more than acceptable psychometric properties and its adoption is justified for both clinical and research purposes

Insights into Pediatric Sleep Disordered Breathing: Exploring Risk Factors, Surgical Interventions, and Physical and Scholastic Performance at Follow-Up

: (1) Background: Sleep-disordered breathing represents a growing public health concern, especially among children and adolescents. The main risk factors for pediatric sleep-disordered breathing in school-age children are tonsillar and adenoid hypertrophy. Adenoidectomy, often in combination with tonsillectomy, is the primary treatment modality for pediatric sleep-disordered breathing. This study aims to comprehensively investigate various risk and protective factors in children with sleep-disordered breathing undergoing adenotonsillar or adenoidal surgeries. We also aim to explore the differences in neuropsychological profiles. (2) Methods: This is an observational, retrospective cohort study. We collected information on adenoidectomy or adenotonsillectomy in children referred to our center. We reviewed the clinical history and preoperative visits and collected data through a telephone questionnaire. The Pediatric Sleep Questionnaire (PSQ) and the Pediatric Quality of Life Inventory (PedsQL) screen sleep-disordered breathing and quality of life, respectively. The data were statistically analyzed using SPSS version 22.0 for Windows (SPSS Inc., Chicago, IL, USA). (3) Results: The study involved 138 patients, but only 100 children participated. A higher percentage of patients with sleep-disordered breathing were observed to have mothers who smoked during pregnancy. A smaller proportion of patients with sleep-disordered breathing habitually used a pacifier. A rise in physical score was associated with a reduced PSQ at follow-up (p = 0.051). An increase in the overall academic score was related to a decrease in the PSQ at follow-up (p < 0.001). A more significant proportion of patients undergoing adenotonsillectomy were observed to have a history of prematurity and cesarean birth. (4) This comprehensive study delves into the intricate interplay of risk and protective factors impacting children with sleep-disordered breathing undergoing adenotonsillectomy and adenoidectomy

Hearing threshold estimation by Auditory Steady State Responses (ASSR) in children

Hearing threshold identification in very young children is always problematic and challenging. Electrophysiological testing such as auditory brainstem responses (ABR) is still considered the most reliable technique for defining the hearing threshold. However, over recent years there has been increasing evidence to support the role of auditory steady-state response (ASSR). Retrospective study. Forty-two children, age range 3-189 months, were evaluated for a total of 83 ears. All patients were affected by sensorineural hearing loss (thresholds ≥ 40 dB HL according to a click-ABR assessment). All patients underwent ABRs, ASSR and pure tone audiometry (PTA), with the latter performed according to the child’s mental and physical development. Subjects were divided into two groups: A and B. The latter performed all hearing investigations at the same time as they were older than subjects in group A, and it was then possible to achieve electrophysiological and PTA tests in close temporal sequence. There was no significant difference between the threshold levels identified at the frequencies tested (0.25, 0.5, 1, 2 and 4 kHz), by PTA, ABR and ASSR between the two groups (Mann Whitney U test, p < 0.05). Moreover, for group A, there was no significant difference between the ASSR and ABR thresholds when the children were very young and the PTA thresholds subsequently identified at a later stage. Our results show that ASSR can be considered an effective procedure and a reliable test, particularly when predicting hearing threshold in very young children at lower frequencies (including 0.5 kHz)

Sleep-Disordered Breathing in Children with Recurrent Wheeze/Asthma: A Single Centre Study

The relationship between asthma and sleep-disordered breathing is bidirectional due to common risk factors that promote airway inflammation. Obstructive sleep-disordered breathing and recurrent wheeze/asthma are conditions that involve the upper and the lower respiratory system, respectively. The aim of the present study was to investigate the sleep disordered breathing in children with recurrent wheeze/asthma. This was a retrospective study concerning children older than 2 years who underwentbetween January 2014 and November 2016an in-laboratory overnight polygraphic study. We match the children between those who do or do not have recurrent wheeze/asthma disease. We examined the clinical records of 137 children. We excluded eight patients because of neurological and genetic conditions. Children with recurrent wheeze/asthma (N = 28) were younger (p = 0.002) and leaner (p = 0.013) compared to non-affected children (N = 98). Children with wheeze/asthma and unaffected ones had a similar obstructive apnea-hypopnea index (p = 0.733) and oxygen desaturation index (p = 0.535). The logistic regression analysis, in which the condition of wheeze/asthma (yes/no) was a dependent variable, while demographic (age, sex, body mass index (BMI) Z-score) and polygraphic results during sleep (obstructive apnea-hypopnea index, central apnea index, peripheral oxygen saturation (SpO(2)), and snoring) were covariates, showed that children with wheeze/asthma had higher central apnea index (Exp(B) = 2.212; Wald 6.845; p = 0.009). In conclusion, children with recurrent wheeze/asthma showed an increased number of central sleep apneas than unaffected children. This finding may suggest a dysfunction of the breathing control in the central nervous system during sleep. Systemic or central inflammation could be the cause

High diagnostic accuracy of RT-QuIC assay in a prospective study of patients with suspected sCJD

The early and accurate in vivo diagnosis of sporadic Creutzfeldt-Jakob disease (sCJD) is essential in order to differentiate CJD from treatable rapidly progressive dementias. Diagnostic investigations supportive of clinical CJD diagnosis include magnetic resonance imaging (MRI), electroencephalogram (EEG), 14-3-3 protein detection, and/or real-time quaking-induced conversion (RT-QuIC) assay positivity in the cerebrospinal fluid (CSF) or in other tissues. The total CSF tau protein concentration has also been used in a clinical setting for improving the CJD diagnostic sensitivity and specificity. We analyzed 182 CSF samples and 42 olfactory mucosa (OM) brushings from patients suspected of having sCJD with rapidly progressive dementia (RPD), in order to determine the diagnostic accuracy of 14-3-3, the total tau protein, and the RT-QuIC assay. A probable and definite sCJD diagnosis was assessed in 102 patients. The RT-QuIC assay on the CSF samples showed a 100% specificity and a 96% sensitivity, significantly higher compared with 14-3-3 (84% sensitivity and 46% specificity) and tau (85% sensitivity and 70% specificity); however, the combination of RT-QuIC testing of the CSF and OM samples resulted in 100% sensitivity and specificity, proving a significantly higher accuracy of RT-QuIC compared with the surrogate biomarkers in the diagnostic setting of patients with RPD. Moreover, we showed that CSF blood contamination or high protein levels might interfere with RT-QuIC seeding. In conclusion, we provided further evidence that the inclusion of an RT-QuIC assay of the CSF and OM in the diagnostic criteria for sCJD has radically changed the clinical approach towards the diagnosis

Relationship between plasma homocysteine and obstructive sleep apneas in children: a preliminary study

Introduction: Plasma homocysteine concentration is increased adult patients with obstructive sleep apneas, whilst it is still unknown if its plasma levels may also be enhanced in obstructive sleep apnea in childhood. We investigated the possible relationship between plasma homocysteine and obstructive sleep apnea in children. Methods: A total number of 199 children were studied between July 2016 and June 2017. All children underwent an overnight respiratory polygraph study. Laboratory data were retrospectively reviewed, inclusing plasma homocysteine, folate and vitamin B12. Statistical analysis was performed using SPSS Statistics 22.0\uae software. Results: Twenty children were finally included in our study. Linear regression analysis showed that plasma homocysteine was positively correlated with age (\u3b2=2.930; p=0.010), and inversely correlated with folate (\u3b2=-4.830; p<0.001), vitamin B12 (\u3b2=-3.844; p=0.002) and haemoglobin (\u3b2=-3.503; p=0.003). No significant correlation was found with platelet count (p=0.578) and apnea-hypopnea index (p=0.272). After age adjustment, homocysteine levels remained inversely correlated with folate, but no association was found with sleep respiratory parameters. Conclusion: This retrospective study suggests that serum homocysteine levels is not increased in children with obstructive sleep apnea, whilst, a folate-enriched diet seems advisable in children with obstructive sleep apnea to counteract oxidative stress. Further controlled studies are needed

Neurodegeneration-associated proteins in human olfactory neurons collected by nasal brushing

The olfactory neuroepithelium is located in the upper vault of the nasal cavity, lying on the olfactory cleft and projecting into the dorsal portion of the superior and middle turbinates beyond the mid-portion of the nasal septum. It is composed of a variety of cell types including olfactory sensory neurons, supporting glial-like cells, microvillar cells, and basal stem cells. The cells of the neuroepithelium are often intermingled with respiratory and metaplastic epithelial cells. Olfactory neurons undergo a constant self-renewal in the timespan of 2\u20133 months; they are directly exposed to the external environment, and thus they are vulnerable to physical and chemical injuries. The latter might induce metabolic perturbations and ultimately be the cause of cell death. However, the lifespan of olfactory neurons is biologically programmed, and for this reason, these cells have an accelerated metabolic cycle leading to an irreversible apoptosis. These characteristics make these cells suitable for research related to nerve cell degeneration and aging. Recent studies have shown that a non-invasive and painless olfactory brushing procedure allows an efficient sampling from the olfactory neuroepithelium. This approach allows to detect the pathologic prion protein in patients with sporadic Creutzfeldt\u2013Jakob disease, using the real-time quaking-induced conversion assay. Investigating the expression of all the proteins associated to neurodegeneration in the cells of the olfactory mucosa is a novel approach toward understanding the pathogenesis of human neurodegenerative diseases. Our aim was to investigate the expression of \u3b1-synuclein, \u3b2-amyloid, tau, and TDP-43 in the olfactory neurons of normal subjects. We showed that these proteins that are involved in neurodegenerative diseases are expressed in olfactory neurons. These findings raise the question on whether a relationship exists between the mechanisms of protein aggregation that occur in the olfactory bulb during the early stage of the neurodegenerative process and the protein misfolding occurring in the olfactory neuroepithelium

Detection of prion seeding activity in the olfactory mucosa of patients with Fatal Familial Insomnia

Fatal Familial Insomnia (FFI) is a genetic prion disease caused by a point mutation in the prion protein gene (PRNP) characterized by prominent thalamic atrophy, diffuse astrogliosis and moderate deposition of PrP Sc in the brain. Here, for the first time, we demonstrate that the olfactory mucosa (OM) of patients with FFI contains trace amount of PrP Sc detectable by PMCA and RT-QuIC. Quantitative PMCA analysis estimated a PrP Sc concentration of about 1 \uc3\u97 10-14g/ml. In contrast, PrP Sc was not detected in OM samples from healthy controls and patients affected by other neurodegenerative disorders, including Alzheimer's disease, Parkinson's disease and frontotemporal dementia. These results indicate that the detection limit of these assays is in the order of a single PrP Sc oligomer/molecule with a specificity of 100%

Childhood nasal obstruction and sleep-disordered breathing during clinical setting: Myth or reality?

Objectives. The severity of sleep apneas largely depends on abnormal size of upper airway. Therefore, nasal examination is essential part of clinical evaluation of children with sleep-disordered breathing. Methods. We performed a retrospective survey involving children aged 4 years and older which underwent in-laboratory overnight cardiorespiratory polygraph study between January 2016 and May 2017. Nasal obstruction test was used to score severity. Results. Fifty-three children (62% males) with a median age of 6.1 (IQR 3.1) years were enrolled in this study. Linear regression analysis showed that nasal obstruction score was correlated with apnea-hypopnea index (\u3b2=0.345; p < 0.014) and oxygen desaturation index (\u3b2=0.328; p < 0.022), whilst no association was found with age, BMI z-score, snoring and phase angle. Correlation analysis also showed that nasal obstruction score was correlated with apnea-hypopnea index (r=0.364; p = 0.009) and oxygen desaturation index (r=0.350; p = 0.012) after adjustment for age and BMI z-score., but not with snoring time or phase angle degree. Conclusions. Nasal obstruction test may be a useful, time saving assessment which aid exploring sleep disordered breathing in children. However, this test should not be used alone because it is plagued by objective consideration and at risk of under or overestimation