Respiratory and sleep disorders in mucopolysaccharidosis.

MPS encompasses a group of rare lysosomal storage disorders that are associated with the accumulation of glycosaminoglycans (GAG) in organs and tissues. This accumulation can lead to the progressive development of a variety of clinical manifestations. Ear, nose, throat (ENT) and respiratory problems are very common in patients with MPS and are often among the first symptoms to appear. Typical features of MPS include upper and lower airway obstruction and restrictive pulmonary disease, which can lead to chronic rhinosinusitis or chronic ear infections, recurrent upper and lower respiratory tract infections, obstructive sleep apnoea, impaired exercise tolerance, and respiratory failure. This review provides a detailed overview of the ENT and respiratory manifestations that can occur in patients with MPS and discusses the issues related to their evaluation and management.

Update of the Brazilian consensus recommendations on Duchenne muscular dystrophy.

In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.

Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.

Sleep findings and predictors of sleep desaturation in adult cystic fibrosis patients.

PURPOSE: Questions remain about the polysomnographic findings and the predictors for sleep desaturation in cystic fibrosis (CF) patients. Our study aimed to evaluate sleep parameters in a sample of adult CF patients comparing them with healthy controls and to determine the best predictors of sleep desaturation in CF patients with awake resting peripheral oxygen saturation (SpO(2)) ≥90%. METHODS: In a cross-sectional study, with data collected prospectively, 51 clinically stable adult CF patients (mean age 25.1 ± 6.7 years) and 25 age-matched controls underwent an overnight polysomnography and answered sleep questionnaires. CF patients had their pulmonary function, 6-min walk test, and echocardiography assessed. RESULTS: CF patients and control subjects had similar sleep architecture. However, CF patients had impaired subjective sleep quality and a higher arousal index than controls. The apnea-hypopnea index was similar in both groups, and only two CF patients (3.9%) fulfilled the criteria for obstructive sleep apnea syndrome. Sleep desaturation was more common in CF patients (29.4% vs 0%; p < 0.001). In a logistic regression model, we observed that awake resting SpO(2) was the single best variable associated with sleep desaturation in CF population (p < 0.001). The awake SpO(2) <94% had a sensitivity, specificity, positive and negative predictive value for sleep desaturation of, respectively, 93.3%, 100%, 100%, and 97.3%. CONCLUSIONS: CF patients had a worse subjective sleep quality and small changes in sleep architecture. In nonhypoxic, adult CF patients, sleep desaturation is common, is not associated with obstructive sleep events, and can be accurately predicted by awake resting SpO(2) <94%.

A multi-intervention protocol to improve sleep quality in a coronary care unit.

AIMS: Poor sleep is a frequent occurrence in the critical illness. Evaluate sleep quality and test the effect of a multi-intervention sleep care protocol in improving sleep quality in a coronary care unit (CCU). METHODS AND RESULTS: Quasi-experimental study, carried out in two phases. During the first phase, the control group (n = 58 patients) received usual care. Baseline sleep data were collected through the Richards-Campbell Sleep Questionnaire (RCSQ) and the Sleep in the Intensive Care Unit Questionnaire (SICUQ). During the second phase (n = 55 patients), a sleep care protocol was implemented. Interventions included actions to promote analgesia, reduce noise, brightness, and other general measures. Sleep data were collected again to assess the impact of these interventions. The intervention group had better scores in overall sleep depth [median (interquartile range)] [81 (65-96.7) vs. 69.7 (50-90); P = 0.046]; sleep fragmentation [90 (65-100) vs. 69 (42.2-92.7); P = 0.011]; return to sleep [90 (69.7-100) vs. 71.2 (40.7-96.5); P = 0.007]; sleep quality [85 (65-100) vs. 71.1 (49-98.1); P = 0.026]; and mean RCSQ score [83 (66-94) vs. 66.5 (45.7-87.2); P = 0.002] than the baseline group. The main barriers to sleep were pain [1 (1.0-5.5)], light [1 (1.0-5.0)], and noise [1 (1.0-5.0)]. The most rated sources of sleep-disturbing noise were heart monitor alarm [3 (1.0-5.25)], intravenous pump alarm [1.5 (1.0-5.00)]. and mechanical ventilator alarm [1 (1.0-5.0)]. All were significantly lower in the intervention group than in the baseline group. CONCLUSION: A multi-intervention protocol was feasible and effective in improving different sleep quality parameters and reducing some barriers to sleep in CCU patients.

Brazilian Thoracic Association Consensus on Sleep-disordered Breathing.

Sleep is essential for the proper functioning of all individuals. Sleep-disordered breathing can occur at any age and is a common reason for medical visits. The objective of this consensus is to update knowledge about the main causes of sleep-disordered breathing in adult and pediatric populations, with an emphasis on obstructive sleep apnea. Obstructive sleep apnea is an extremely prevalent but often underdiagnosed disease. It is often accompanied by comorbidities, notably cardiovascular, metabolic, and neurocognitive disorders, which have a significant impact on quality of life and mortality rates. Therefore, to create this consensus, the Sleep-Disordered Breathing Department of the Brazilian Thoracic Association brought together 14 experts with recognized, proven experience in sleep-disordered breathing.

Sleep abnormalities in untreated patients with mucopolysaccharidosis type VI.

Mucopolysaccharidosis type VI (MPS VI) is a lysosomal storage disease that affects an enzyme responsible for the degradation of glycosaminoglycans (GAGs). Partially degraded GAGs accumulate in several tissues, such as the upper airways (UA), which leads to the development of obstructive sleep apnea (OSA). Our objective was to determine the prevalence of OSA in a group of untreated patients with MPS VI and the association of OSA with clinical and echocardiographic findings. Patients aged 4 years or older with a biochemical diagnosis of MPS VI were included. Data about clinical history, physical examination, Doppler echocardiogram, and overnight polysomnography (PSG) were collected. Our results showed that of the 28 participants, 14 were boys; mean age was 98.5 months, and mean age at MPS VI diagnosis was 48.4 months. Snoring, witnessed apnea, pectus carinatum, and macroglossia were the main clinical findings. PSG results showed that 23:27 patients (85.1%) had OSA which was mild in 4, moderate in 5, and severe in 14 patients. Echocardiograms showed evidence of pulmonary hypertension (PH) in 14 patients. Lower (P = 0.037) and nadir SpO(2) (P = 0.007) were positively associated with PH. Clinical signs suggestive of respiratory abnormalities during sleep were not significantly correlated with the results of PSG. We conclude that the prevalence of OSA in patients with MPS VI was high, and the level of desaturation was positively correlated with PH. Symptoms during sleep were not associated with PSG findings, which suggests that this population should undergo routine PSG as earlier as possible. This study provides baseline data to estimate the potential impact of specific treatments in the sleep abnormalities presented by patients with MPS VI.

CROSS-CULTURAL ADAPTATION AND VALIDATION OF THE MONTREAL CHILDREN'S HOSPITAL FEEDING SCALE INTO BRAZILIAN PORTUGUESE.

OBJECTIVE: To cross-culturally adapt and validate the Montreal Children's Hospital Feeding Scale (MCH-FS) into Brazilian Portuguese. METHODS: The MCH-FS, originally validated in Canada, was validated in Brazil as Escala Brasileira de Alimentação Infantil (EBAI) and developed according to the following steps: translation, production of the Brazilian Portuguese version, testing of the original and the Brazilian Portuguese versions, back-translation, analysis by experts and by the developer of the original questionnaire, and application of the final version. The EBAI was applied to 242 parents/caregivers responsible for feeding children from 6 months to 6 years and 11 months of age between February and May 2018, with 174 subjects in the control group and 68 ones in the case group. The psychometric properties evaluated were validity and reliability. RESULTS: In the case group, 79% of children were reported to have feeding difficulties, against 13% in the control group. The EBAI had good internal consistency (Cronbach's alpha=0.79). Using the suggested cutoff point of 45, the raw score discriminated between cases and controls with a sensitivity of 79.4% and specificity of 86.8% (area under the ROC curve=0.87). CONCLUSIONS: The results obtained in the validation process of the EBAI demonstrate that the questionnaire has adequate psychometric properties and, thus, can be used to identify feeding difficulties in Brazilian children from 6 months to 6 years and 11 months of age.

Predictors of Respiratory Dysfunction at Diagnosis of Robin Sequence.

OBJECTIVES/HYPOTHESIS: Robin sequence (RS) consists of associated micrognathia, glossoptosis, and respiratory dysfunction, with or without cleft palate. Studies on how different patient characteristics impact the severity of respiratory dysfunction are scarce and contradictory; this study investigates how different features affect respiratory obstruction severity at diagnosis of RS in controlled analysis. STUDY DESIGN: Retrospective cohort study that enrolled 71 RS patients under 90 days old who received care in our institution from 2009 to 2020. METHODS: The primary outcome, respiratory dysfunction, was categorized into four severity groups and analyzed using a multinomial logistic regression model that considered age, sex, mandible length, cleft palate, syndromic diagnosis, other airway anomalies, and degree of glossoptosis. RESULTS: Mandible length, syndromic diagnosis, and Yellon grade 3 glossoptosis were related to poorer respiratory outcomes (need for respiratory support). In univariate analysis, for each additional 1 mm of mandible length at diagnosis, a mean reduction of 28% in the risk of needing respiratory support was observed (OR = 0.72; 0.58-0.89); syndromic diagnosis and grade 3 glossoptosis also raised the risk (OR = 6.50; 1.59-26.51 and OR = 12.75; 1.03-157.14, respectively). In multivariate analysis, only mandible length significantly maintained its effects (OR = 0.73; 0.56-0.96), a 27% reduction. CONCLUSIONS: Mandible length was an independent predictor for more severe respiratory dysfunction in RS patients, with larger mandibles showing protective effects. Syndromic diagnosis and Yellon grade 3 glossoptosis are also likely to be associated with poorer respiratory outcomes, although this was not demonstrated in multivariate analysis. LEVEL OF EVIDENCE: 4 Laryngoscope, 131:2811-2816, 2021.

Sleep quality and architecture in COPD: the relationship with lung function abnormalities.

OBJECTIVE: Impaired respiratory mechanics and gas exchange may contribute to sleep disturbance in patients with COPD. We aimed to assess putative associations of different domains of lung function (airflow limitation, lung volumes, and gas exchange efficiency) with polysomnography (PSG)-derived parameters of sleep quality and architecture in COPD. METHODS: We retrospectively assessed data from COPD 181 patients ≥ 40 years of age who underwent spirometry, plethysmography, and overnight PSG. Univariate and multivariate linear regression models predicted sleep efficiency (total sleep time/total recording time) and other PSG-derived parameters that reflect sleep quality. RESULTS: The severity of COPD was widely distributed in the sample (post-bronchodilator FEV1 ranging from 25% to 128% of predicted): mild COPD (40.3%), moderate COPD (43.1%), and severe-very severe COPD (16.6%). PSG unveiled a high proportion of obstructive sleep apnea (64.1%) and significant nocturnal desaturation (mean pulse oximetry nadir = 82.2% ± 6.9%). After controlling for age, sex, BMI, apnea-hypopnea index, nocturnal desaturation, comorbidities, and psychotropic drug prescription, FEV1/FVC was associated with sleep efficiency (ß = 25.366; R2 = 14%; p < 0.001), whereas DLCO predicted sleep onset latency (ß = -0.314; R2 = 13%; p < 0.001) and rapid eye movement sleep time/total sleep time in % (ß = 0.085; R2 = 15%; p = 0.001). CONCLUSIONS: Pulmonary function variables reflecting severity of airflow and gas exchange impairment, adjusted for some potential confounders, were weakly related to PSG outcomes in COPD patients. The direct contribution of the pathophysiological hallmarks of COPD to objectively measured parameters of sleep quality seems to be less important than it was previously assumed.

Nocturnal reflux in children and adolescents with persistent asthma and gastroesophageal reflux.

BACKGROUND: A higher frequency of nocturnal gastroesophageal reflux (GER) in adult patients with respiratory symptoms has been demonstrated. The aim of this study was to determine the prevalence of nocturnal GER by using prolonged intraesophageal pH monitoring and compare it with spirometry results in children with persistent asthma. METHODS: Thirty-eight patients with persistent asthma for at least 2 years were studied. Gastrointestinal symptoms suggestive of GER were considered as regurgitation, heartburn, and abdominal pain. All patients underwent prolonged intraesophageal pH study and spirometry. GER was considered positive when a reflux index (RI) was higher than 5%. Forced vital capacity (FVC), forced expiratory volume in 1 second (FEV(1)), forced mid-expiratory flow rate (FEF(25-75%)), and FEV(1)/FVC ratio were measured. RESULTS: Median age was 10 years of age (range 5 to 15) and 58% were male; GER prevalence was 47.3%. Median (range) of reflux index during supine and upright periods from GER patients were, respectively, 8.7% (3.2 to 23.6) and 10.5% (5.2 to 15.0) (p = 0.913), and only FEF(25-75%) was below the predicted value: 54.5% (39.4 to 96.9). Reflux index was not significantly correlated with FVC, FEV(1) and FEF(25-75%). CONCLUSIONS: A high prevalence of GER was found in children and adolescents with persistent asthma, equally distributed in the supine (nocturnal) and upright positions. There was no correlation with pulmonary function test.

Current Methods of Bruxism Diagnosis: A Short Communication.

PURPOSE: To assess the current diagnostic methods for sleep bruxism (SB). MATERIALS AND METHODS: This review of the literature evaluates all available instrumental and noninstrumental methods of bruxism/SB diagnosis. RESULTS: SB diagnosis can be performed using self-reports and clinical examination, but these methods have little agreement with polysomnography. Two portable electromyography/electrocardiography appliances have been validated against polysomnography (BiteStrip and Bruxoff), but they are indicated only for primary SB. Polysomnography is considered the gold standard and is indicated for secondary SB; however, it is expensive and time-consuming. CONCLUSION: No perfect method of SB diagnosis exists, and future research should concentrate on improving SB self-reports.

Validation of the Brazilian version of the Pediatric Obstructive Sleep Apnea Screening Tool questionnaire.

OBJECTIVE: To validate the Pediatric Obstructive Sleep Apnea Screening tool for use in Brazil. MATERIALS AND METHODS: The Brazilian version of this questionnaire, originally validated and tested in the United States, was developed as follows: (a) translation; (b) back-translation; (c) completion of the final version; (d) pre-testing. The questionnaire was applied prior to polysomnography to children aged 3-9 years from October 2015 to October 2016, and its psychometric properties (i.e., validity and reliability) were evaluated. The accuracy was assessed from comparisons between polysomnographic results and corresponding questionnaire scores. RESULTS: Sixty patients were enrolled, and based on polysomnographic findings, 48% patients had normal apnea-hypopnea index, while the remaining 52% met the criteria for obstructive sleep apnea. Minimum O2 saturation level was significantly lower among obstructive sleep apnea children (p=0.021). Satisfactory concordance was found between individual apnea-hypopnea index and questionnaire scores. Bland-Altman plot-derived bias was 0.1 for the difference between measures, with 5.34 (95% CI: 4.14-6.55) and -5.19 (95%CI: -6.39 to -3.98) for the upper and lower agreement range. Internal consistency derived from Cronbach's alpha was 0.84 (95%CI: 0.78-0.90). CONCLUSION: The questionnaire was translated to and validated into Brazilian-Portuguese version, and showed good reliability and concordance with apnea-hypopnea index. This questionnaire offers a reliable screening option for sleep-disordered breathing in children.

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression.

In mucopolysaccharidosis I, deficiency of alpha-L-iduronidase can cause spinal cord compression (SCC) due to storage of glycosaminoglycans (GAGs) within the cervical meninges. As intravenous enzyme replacement therapy (ERT) is not likely to provide enzyme across the blood-brain barrier, standard treatment for this complication is usually surgical, which has a high morbidity and mortality risk. We report on the use of intrathecal (IT) laronidase in a MPS I patient with SCC who refused the surgical treatment. Assessments were performed at baseline, with clinical and biochemical evaluations, 4-extremity somatosensory evoked potentials, 12 min walk test and MRI studies of the CNS. Changes on these parameters were evaluated after 4 IT infusions of laronidase administered monthly via lumbar puncture. To our knowledge, this was the first MPS patient who received IT ERT. No major adverse events were observed. There were no clinically significant changes in serum chemistries. CSF GAG results revealed pretreatment values slightly above normal standards: 13.3 mg/L (NV < 12 mg/L) which after IT laronidase infusions were within normal levels (10.3 mg/L). 12MWT presented a 14% improvement, with better performance on stability and gait control. Maximum voluntary ventilation showed 55.6% improvement considering the percentage of predicted (26.7% at baseline compared to 41.9%); Maximum Inspiration Pressure improved 36.6% of predicted (26.8% at baseline to 36.7%); Pulmonary diffusion improved 17.6% of predicted %. In conclusion, although the improvement observed in this case with IT laronidase should be confirmed in further patients, this procedure seems to be a safe treatment for SCC in MPS I.

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): assessment of joint mobility and grip and pinch strength.

OBJECTIVE: To describe the profile of joint mobility and grip and pinch strength of MPS VI patients and to correlate this with urinary excretion of glycosaminoglycans (GAGs), ARSB activity, and the distance covered in a 6-minute walking test (6MWT). METHODS: This was an observational study of 28 patients with MPS VI, who had not undergone specific treatment. All patients were assessed for amplitude of joint mobility (shoulder, elbow, and knee), grip and pinch strength and urinary GAG excretion and also performed the 6MWT. RESULTS: Shoulder flexion exhibited the greatest limitation, with no correlation with age, followed by knee extension and elbow flexion, both of which were correlated inversely with age. Hand grip strength was compromised in all patients, and pinch strength exhibited a positive correlation with age. CONCLUSIONS: The fact that restricted shoulder flexion was not correlated with age suggests that this finding is present early on in MPS VI and that it constitutes an important clinical sign that should arouse diagnostic suspicion of this disease. The amplitude of knee extension and elbow flexion, in turn, are possible markers of disease progression since they have a negative correlation with age. Further studies are needed to confirm these hypotheses.

The Effects of Sleeping With or Without Prostheses on Sleep Quality, Sleep Bruxism, and Signs of Obstructive Sleep Apnea Syndrome: A Pilot Study.

PURPOSE: To evaluate the effects of sleeping with or without a maxillary mucosa-supported complete denture (CD) in edentulous patients wearing a mandibular fixed implant-supported CD on sleep quality, sleep bruxism (SB) activity, and signs of obstructive sleep apnea syndrome (OSAS). MATERIALS AND METHODS: A total of 18 female patients with maxillary mucosa-supported CDs opposing mandibular fixed implant-supported CDs were selected and tested for sleep quality, SB activity, and signs of OSAS during one night while wearing the maxillary CD and another night without wearing it, with a washout period of 7 days in between. The validated Brazilian Portuguese versions of the Pittsburgh Sleep Quality Index (PSQI-BR), Sleep Assessment Questionnaire (SAQ), and Epworth Sleepiness Scale (ESSBR) were used to assess subjective sleep quality. Diagnosis of OSAS followed the American Academy of Sleep Medicine (AASM) guidelines and was confirmed with an objective and validated type 3 portable cardiorespiratory monitor (ApneaLink Plus v.9.00) by measuring the respiratory disturbance index (RDI). SB activity was assessed with a subjective self-report questionnaire and an objective and validated portable electromyographic device (BiteStrip). RESULTS: The objective measurements of SB activity and the RDI showed significant reduction (ie, improvement) when patients did not wear the maxillary CD. The subjective measurements of sleep quality and self-reports of SB activity showed no significant differences between wearing and not wearing a maxillary CD. CONCLUSION: The present results have shown that not wearing a maxillary CD at night is preferable as far as SB and OSAS are concerned, but larger-scale studies are still needed.

Diagnostic accuracy of current glossoptosis classification systems: A nested cohort cross-sectional study.

OBJECTIVES/HYPOTHESIS: To assess the performance of endoscopic grading systems of glossoptosis in identifying severe clinical manifestations in children with Robin sequence (RS). STUDY DESIGN: Nested cohort cross-sectional study. METHODS: All RS patients diagnosed at Hospital Clinics of Porto Alegre from October 2012 to June 2016 were enrolled in this cohort. Patients underwent sleep endoscopy and were classified according to Yellon (Y) and de Sousa et al. (S) scales. Symptom severity evaluation was performed as defined by Cole et al. The outcome of interest was Cole's clinical classification grade 3. RESULTS: Eighty patients were eligible for analysis. Sensitivity (Y: 56.2%, S: 28.1%, P < .001) and specificity (Y: 85.4%, S: 93.8%, P = .038) in identifying severe clinical symptoms patients (i.e., Cole grade 3) were statistically different between Y and S classifications. A low but significant overall correlation was observed for both Y (rho = 0.372, P < .001) and S (rho = 0.439, P < .001) classifications when compared with Cole classification. Diagnostic odds ratio (DOR) for Y (DOR: 7.53, 95% confidence interval [CI]: 4.15-10.90) and S (DOR: 5.87, 95% CI: 1.86-9.87) were equivalent (P = .92). Also, receiver operating characteristic curves area under the curve were not significantly different between them. The positive likelihood ratio was 3.86 (95% CI: 1.82-8.16) and 4.50 (95% CI: 1.32-15.36) for Y and S, respectively. CONCLUSIONS: Y and S grading systems showed a low sensitivity and moderate to high specificity in detecting patients with severe clinical manifestations. Correlation between Y/S and Cole et al. grading were also considered low. Development of a more discriminative anatomic grading system is still needed for this specific disorder. LEVEL OF EVIDENCE: 2b. Laryngoscope, 128:502-508, 2018.

Pulmonary hypertension as estimated by Doppler echocardiography in adolescent and adult patients with cystic fibrosis and their relationship with clinical, lung function and sleep findings.

BACKGROUND: In cystic fibrosis (CF) patients, end stage of pulmonary disease is characterized by pulmonary hypertension (PH), hypoxemia, decrease in exercise tolerance, and sleep quality. OBJECTIVE: To evaluate the association between clinical, lung function, sleep quality, and polysomnographic variables with PH in CF patients aged 16 years or older. METHODS: In a cross-sectional study, 51 clinically stable CF patients underwent a clinical evaluation, an overnight polysomnography and answered sleep questionnaires (Pittsburgh Sleep Quality Index and Epworth sleepiness scale). Also, CF patients had their pulmonary function, 6-minute walk test (6MWT) and echocardiography assessed. RESULTS: Fifty-one CF patients participated in the study; 47% were female. The mean age was 25.1 ± 8.8 years. Pulmonary artery systolic pressure (PASP) was greater than 35 mm Hg in 11 (27.5%) patients. Variables associated with PASP>35 mm Hg in univariate analysis were Shwachman-Kulczycki clinical score, forced expiratory volume in 1 second % of predicted, Pseudomonas aeruginosa in sputum culture, at-rest peripheral capillary oxygen saturation (SpO2 ), SpO2 at end of 6MWT and time of oxygen desaturation <90% during sleep. These variables were included in the binary logistic regression. The independent variable associated with the PASP > 35 mm Hg was at-rest SpO2 (OR = 10.8, CI 95% 1.7-67.3, P = .011). The cuttoff SpO2 < 94% had the sensitivity = 7/11 = 64%, specificity = 40/40 = 100%, positive predicted values = 7/7 = 100% and negative predicted values = 40/44 = 91% to the diagnosis of PH. CONCLUSION: the present study showed a high rate of PH in adolescent and adult CF patients. At-rest SpO2 was associated with PH.

Association of polysomnographic parameters with clinical symptoms severity grading in Robin sequence patients: a cohort nested cross-sectional study.

OBJECTIVES: To evaluate the association of polysomnographic parameters with clinical symptom severity in Robin sequence (RS) patients. METHODS: All patients diagnosed as presenting with RS at Hospital de Clínicas de Porto Alegre from October 2012 to June 2016 were enrolled. They were classified as isolated RS, RS-plus, and syndromic RS. Polysomnography (PSG) was performed, except for those patients in need of respiratory support. Symptom severity was evaluated as defined by the Cole et al. CLASSIFICATION: Ordinal OR (for the chance of increase in one grade on the clinical severity scale) and R2 (determination coefficient from ordinal logistic regression) were computed from data analysis. RESULTS: A total of 80 participants were enrolled in the study. Fifty-five of these were able to undergo polysomnography. Worsening of the studied PSG parameters was associated with increase in clinical severity grading, as follows: desaturation index (OR 1.27; 95% CI; 1.07-1.51; R2 = 19.8%; p = 0.006); apnea/hypopnea Index (OR 1.13; 95% CI; 1.01-1.26; R2 = 12.5%; p = 0.02); sleep mean oxygen saturation (OR 0.16; 95% CI; 0.05-0.52; R2 = 22.6%; p = 0.002); oxygen saturation nadir (OR 0.73; 95% CI; 0.56-0.96; R2 = 10.0%; p = 0.02); percentage of time with oxygen saturation <90% (OR 9.49; 95% CI; 1.63-55.31, R2 = 37.6%; p = 0.012); and percentage of time presenting with obstruction (OR 2.5; 95% CI; 1.31-4.76; R2 = 25.1%; p = 0.006). CONCLUSIONS: Polysomnography parameters were associated with severity of clinical manifestations in patients with RS. Oxyhemoglobin saturation-based parameters had surprisingly significant R2 values. Therefore, those parameters, which have traditionally been undervalued in other clinical settings, should also be assessed in the polysomnographic evaluation of RS patients.

Acoustic signal of silent tracheal aspiration in children with oropharyngeal dysphagia.

Objetive: The aim of this study was to characterize the acoustic signal of silent tracheal aspiration in children with oropharyngeal dysphagia (OPD). METHOD: Thirty-two children with OPD were examined with combined digital cervical auscultation (DCA) and videofluoroscopic swallow study (VFSS). Power spectral density (PSD, in 1/√Hz) of the acoustic signal from a sequential series of five liquid swallows was used for comparisons between children who silently aspirated and children who did not aspirate on VFSS. Fourteen children were excluded due to either DCA/VFSS artifact or non-silent aspiration (cough, choking). RESULTS: The remaining 18 participants (median age 6 years, range 2-12.8) were classified based on VFSS as aspirators (n = 8) and non-aspirators (n = 10). The PSD curve of aspirators presented an ascending pattern (1st vs. 5th deglutition: 695.2 vs. 4421.9 1/√Hz), while the curve of non-aspirators was flat (1st vs. 5th deglutition: 509 vs. 463.4 1/√Hz), with marked differences being observed from the 3rd measure onwards (p < .001). In this study, DCA was able to identify silent tracheal aspiration in children with OPD. CONCLUSION: This non-invasive technique identified aspiration by an increase in the PSD curve in aspiration sounds.