Implementation of a high fidelity simulation based training program for physicians of children requiring long term invasive home ventilation: a study by ISPAT team.

Introduction: The number of children requiring long-term invasive home ventilation (LTIHV) has increased worldwide in recent decades. The training of physicians caring for these children is crucial since they are at high risk for complications and adverse events. This study aimed to assess the efficacy of a comprehensive high-fidelity simulation-based training program for physicians caring for children on LTIHV. Methods: A multimodal training program for tracheostomy and ventilator management was prepared by ISPAT (IStanbul PAediatric Tracheostomy) team. Participants were subjected to theoretical and practical pre-tests which evaluated their knowledge levels and skills for care, follow-up, and treatment of children on LTIHV. Following the theoretical education and hands-on training session with a simulation model, theoretical and practical post-tests were performed. Results: Forty-three physicians from 7 tertiary pediatric clinics in Istanbul were enrolled in the training program. Seventy percent of them had never received standardized training programs about patients on home ventilation previously. The total number of correct answers from the participants significantly improved after the theoretical training (p < 0.001). The number of participants who performed the steps correctly also significantly increased following the hands-on training session (p < 0.001). All of the 43 participants who responded rated the course overall as good or excellent. Conclusion: The knowledge and skills of clinicians caring for children on LTIHV can be enhanced through a comprehensive training program consisting of theoretical training combined with hands-on training in a simulation laboratory.

The ISPAT project: Implementation of a standardized training program for caregivers of children with tracheostomy.

BACKGROUND: Tracheostomy-related morbidity and mortality mainly occur due to decannulation, misplacement, or obstruction of the tube. A standardized training can improve the skills and confidence of the caregivers in tracheostomy care (TC). OBJECTIVE: Our primary aim was to evaluate the efficiency of standardized training program on the knowledge and skills (changing-suctioning the tracheostomy tube) of the participants regarding TC. MATERIALS AND METHODS: Sixty-five caregivers of children with tracheostomy were included. First, participants were evaluated with written test about TC and participated in the practical tests. Then, they were asked to participate in a standardized training session, including theoretical and practical parts. Baseline and postintervention assessments were compared through written and practical tests conducted on the same day. RESULTS: A significant improvement was observed in the written test score after the training. The median number of correct answers of the written test including 23 questions increased 26%, from 12 to 18 (p < .001). The median number of correct steps in tracheostomy tube change (from 9 to 16 correct steps out of 16 steps, 44% increase) and suctioning the tracheostomy tube (from 9 to 17 correct steps out of 18 steps, 44% increase) also improved significantly after the training (p < .001, for both). CONCLUSION: Theoretical courses and practical hands-on-training (HOT) courses are highly effective in improving the practices in TC. A standardized training program including HOT should be implemented before discharge from the hospital. Still there is a need to assess the impact of the program on tracheostomy-related complications, morbidity, and mortality in the long term.

Efficacy of standardized tracheostomy training with a simulation model for healthcare providers: A study by ISPAT team.

INTRODUCTION: Tracheostomy care in children may be challenging, due to lack of knowledge of healthcare providers (HCPs). The aim of this study was to determine the level of knowledge of HCP who follow patients with tracheostomy and to increase this level with theoretical training and training in a simulation laboratory. MATERIALS AND METHODS: ISPAT (IStanbul PAediatric Tracheostomy), a multidisciplinary team for tracheostomy care was established and a training program was prepared. Participants were subjected to theoretical and practical pretests which evaluated their knowledge levels and skills for care, follow-up, and treatment of a patient with tracheostomy. After the theoretical and practical training given to the participants with a simulation model, theoretical and practical posttests were applied. RESULTS: Fifty-one HCP from nine tertiary pediatric clinics in Istanbul were enrolled in the training program. Only six (11.8%) of them had received standardized training programs previously. Regarding the theoretical tests, seven of the 33 questions were indicated as essential. The knowledge level of the participants based on the essential questions significantly increased after the training (p < 0.05 for all of the essential questions). The total number of correct answers and correct answers of three subheadings also significantly increased after the practical training (p < 0.001 for all). Ninety-five percent of the participants assessed the course as good or excellent in general. CONCLUSION: Training in a simulation laboratory in combination with theoretical education can improve the knowledge and skills of the HCP enabling improved care of children with a tracheostomy.

Depression and anxiety in mothers of home ventilated children before and during COVID-19 pandemic.

BACKGROUND: Due to advances in technology, home ventilation in children has increased in recent years. The provision of proper care for a home-ventilated (HV) child can have a strong impact on the lifestyle of caregivers. The aim of this study was to evaluate the depression and anxiety levels of the mothers of HV children during the current COVID-19 pandemic and compare them to those of mothers of healthy peers. METHODS: This cross-sectional study was conducted on HV children (n = 21) and a control group of healthy peers (n = 32) by means of a questionnaire completed by the mothers of the children of both groups. Psychometric scales, such as the Beck Depression Inventory (BDI), the State-Trait Anxiety Inventory-State (STAI-S), and the State-Trait Anxiety Inventory-Trait (STAI-T), were used to assess participants. RESULTS: During the pandemic signs of depression were present in 8 (38.1%) of the case group and 8 (25%) of the healthy control group. Comparison of the BDI scores from before and during the pandemic showed no difference between mothers of the HV children (p = .09). Scores for BDI and STAI-T were higher in the case group than in the control group, whereas there was no significant difference in STAI-S scores. CONCLUSION: Depression and anxiety levels of mothers of HV children were found to be higher during the COVID-19 pandemic. Economic, medical, and social support resources are needed to reduce levels of depression and anxiety and help mothers of those children dependent on technology.

Comparison of conventional chest physiotherapy and oscillatory positive expiratory pressure therapy in primary ciliary dyskinesia.

BACKGROUND: Chest physiotherapy (CP) is a recommended treatment modality in primary ciliary dyskinesia (PCD). OBJECTIVE: Primary aim was to compare the efficacy and safety of the conventional chest physiotherapy (CCP) and oscillatory positive expiratory pressure therapy (OPEPT). Secondary aims were to compare the exacerbation rate, time until the first exacerbation, patient compliance and comfort between the two CP methods. METHODS: This is a 6 month randomized, controlled crossover trial. Patients >6 years of age with PCD were randomized into two groups, first group was assigned to OPEPT (Acapella®) for 3 months while second group was assigned to CCP. Groups were crossed over to the other modality after a 15-day washout period. Pulmonary function tests (PFTs) and compliance were monitored by monthly clinic visits. RESULTS: There was a significant increase in FEV1 , FEF25-75 , and PEF values (p = .018, p = .020, and p = .016, respectively) in the OPEPT group and in FVC values (p = .007) in CCP group compared to baseline. However PFT increase at 3rd month was not superior to each other with both physiotherapy methods. Median acute pulmonary exacerbation rate and time period until the first exacerbation were similar in both groups (p = .821, p = .092, respectively). Comfort and effectiveness of OPEPT was higher than CCP according to patients (p = .029 and p = .042, respectively). There were no adverse effects with either therapy. CONCLUSIONS: OPEPT was as effective as CCP in PCD patients. OPEPT was more comfortable and effective than CCP according to patients. OPEPT might be an efficient alternative method for airway cleareance in PCD patients.

An Adolescent Presented With Hemoptysis: Pulmonary Artery Aneurysm in Pediatric Behçet's Disease.

Behçet's disease (BD) is a rare autoimmune and chronic inflammatory vasculitis, characterized by relapsing episodes of oral aphthous and genital ulcers, skin lesions, ocular lesions and vascular involvement. Pulmonary artery involvement is rare in BD but it carries a high mortality risk. In this article, we report a 15-year-old male patient presented with a two-month history of hemoptysis, cough, fewer and weight loss. On physical examination, auscultation revealed decreased breath sounds at left lung base. Bronchoscopy showed narrowed left lower lobe bronchus due to the external compression. Computed tomography angiography revealed multiple bilateral pulmonary artery aneurysms. Pathergy test was positive and he was diagnosed with BD. BD should be considered in the differential diagnosis of childhood hemoptysis.

Health-related quality of life in patients with bronchiolitis obliterans.

INTRODUCTION: Bronchiolitis obliterans (BO) is mainly caused by infections and hematopoietic stem cell transplantation (HSCT). This study aimed to investigate the health-related quality of life (HRQOL) of children with BO compared to the healthy children and also to assess the HRQOL according to the etiology. METHODS: Postinfectious (group 1) and post-HSCT BO (group 2) patients and healthy children were included in the study. HRQOL was assessed by the Short Form-36 (SF-36) and St George's Respiratory Questionnaire (SGRQ). Correlations between demographic and clinical characteristics, pulmonary function tests, high-resolution chest tomography scores, and HRQOL were assessed. RESULTS: Thirty-seven postinfectious and post-HSCT BO patients and 34 healthy children were included in the study. Mean age was 13.8 ± 0.7 years. Mean forced vital capacity and forced expiratory volume1 were 60.7 ± 2.7% predicted, and 49.8 ± 3.1% predicted, respectively. The SF-36 scores were lower in BO patients compared to healthy children (P < .01). Patients with better lung functions had higher SF-36 scores, but lower SGRQ. The number of inhaled therapies, acute exacerbations, hospitalizations were inversely correlated with SF-36. A positive correlation was found between these parameters and total SGRQ scores (r = .507, P = .02; r = .409, P = .12; r = .326, P = .049, respectively). SF-36 scores were better in group 1 for subscales of physical role functioning and social role functioning compared to group 2. (P = .01, P = .01, respectively). CONCLUSION: The HRQOL of patients with BO measured by SF-36 was low compared to healthy children. SF-36 scores were more affected in post-HSCT BO patients. HRQOL of children with chronic lung disease should be taken into consideration in the management of these patients.

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul.

BACKGROUND: Cystic fibrosis (CF) genotyping has garnered increased attention since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 led to the identification of over 1700 mutations on chromosome 7. Yet, little is known about the genetic profile of CF patients in Turkey. This study sought to determine the mutation distribution among CF patients seeking care at Marmara University. METHODS: Two hundred fifty previously diagnosed CF patients were included in the study. CFTR gene exons 1 to 27 were amplified by a polymerase chain reaction and whole DNA sequencing was performed. Duplications and deletions were investigated by the multiplex ligation-dependent probe amplification (MLPA) technique in patients with one or two unidentified mutations in sequence analysis. RESULTS: CFTR mutation analysis revealed 80 mutations and five large deletions were present in our study population. The five most common mutations were (delta) F508 (c.1521-1523delCTT) (28.4%), 1677delTA (c.1545-1546delTA) (6.4%), 2789 + 5G- > A (c.2657 + 5G > A) (5.8%), N1303K (c.3909C > G) (2.4%), and c.2183AA- > G (c.2051-2052delAAinsG) (4.0%). Large deletions were found in 16 patients. Four novel mutations and two novel deletions were detected in this study. CONCLUSIONS: We have identified four novel mutations and two novel deletions using next-generation DNA sequencing and the MLPA technique and obtained an overall mutation detection rate of 91.4%. Detection of novel variants in CF patients will assist in genetic counseling and in determining appropriate patients for new therapies.

Performance Evaluation of a New Coulometric Endpoint Method in Sweat Testing and Its Comparison With Classic Gibson&Cooke and Chloridometer Methods in Cystic Fibrosis.

Background: The objective of the study was to assess the diagnostic efficacy of the coulometric endpoint method and compare it with classic Gibson&Cooke and chloridometer methods. Methods: This study is a prospective clinical study comparing two conventional sweat testing methods with the coulometric endpoint method in previously diagnosed cystic fibrosis (CF) patients and a non-CF control group. All individuals underwent two simultaneous sweat collections. One sample of sweat, collected by the CFΔ collector coil system, was analyzed by two methods: the titrimetric Cl- measurement (Sherwood® Chloridometer 926S, Sherwood Scientific Ltd., Cambridge, UK) and the coulometric endpoint method (CF Δ Collection System®, UTSAT/Turkey); the second sample was collected from the other forearm by the Gibson&Cooke method and the collected sweat was analyzed by manual titration in accordance with the Schales&Schales method. Within-run and between-run imprecisions were evaluated via Cl- concentrations of 40, 70, and 130 mmol/L samples. Results: One hundred and seventy (60 CF and 110 controls) subjects were included in the study. All three sweat test methods discriminated CF subjects from the healthy individuals. The mean difference between the coulometric endpoint and titrimetric Cl- measurement methods was -1.5 mmol/L, (95% confidence limits of agreement, ranging from -8.9 to 15.9 mmol/L); the mean difference between manual titration vs. coulometric endpoint methods was 12.8 mmol/L, (95% confidence limits of agreement ranging from -9.7 to 45.3 mmol/L) and the mean difference between the manual titration and titrimetric Cl- measurement methods was 11.3 mmol/L, (95% confidence limits of agreement ranging from -7.8 to 40.5 mmol/L) based on a Bland-Altman analysis. In the Receiver operating characteristic (ROC) analysis, made on the basis that Cl- concentration values < 40 mmol/L exclude the CF diagnosis, the coulometric endpoint method resulted in 96.7% sensitivity and 100% specificity for a cut-off value of 58.5 mmol/L (AUC: 0.994; 95% CI = 0.986-1.000; p < 0.001). Conclusions: The coulometric endpoint method can be as reliable as quantitative sweat Cl- analysis and may be considered as a definitive diagnostic tool for CF.

Adolescente con fibroelastosis pleuroparenquimatosa idiopatica: A propòsito de un caso / An adolescent with idiopathic pleuroparenchymal fibroelastosis: Case report

La fibroelastosis pleuroparenquimatosa idiopàtica (FEPPI) es un trastorno raro incluido recientemente en las neumonías intersticiales idiopáticas según la actualización de la clasificación de la Sociedad Torácica Estadounidense (American Thoracic Society) y la Sociedad Respiratoria Europea (European Respiratory Society). La FEPPI se caracteriza por fibrosis parenquimatosa pleural y subpleural que produce reducción del volumen, sobre todo en los lóbulos pulmonares superiores. La edad al momento de la aparición varía, aunque la FEPPI ocurre principalmente entre los 30 y los 50 años de edad. En este artículo, presentamos el caso de un paciente de 16 años con antecedentes de disnea de esfuerzo, tos seca y pérdida de peso en los últimos dos años. Durante el examen físico, con la auscultación se detectó disminución de los ruidos respiratorios en los lóbulos superiores. En la radiografía de tórax se observó engrosamiento pleural apical y volumen reducido. En la tomografia computarizada (TC) del tórax se observaron densidades en vidrio esmerilado y bronquiectasia tubular predominantemente en ambos lóbulos superiores, con engrosamiento septal interlobulillar de la pleura y adenopatía mediastínica. Se realizó una biopsia pulmonar por toracoscopia y en el examen histológico se observaron fibrosis subpleural y tinción de las fibras elásticas que demostraba depósito de fibras elásticas en el área subpleural y el parénquima pulmonar adyacente, lo que sugería FEPPI. Hasta donde sabemos, este es el primer caso durante la niñez. Por lo tanto, los pediatras deben estar atentos a esta enfermedad para realizar un diagnóstico y tratamiento adecuados.

Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a rare disorder recently included in rare idiopathic interstitial pneumonias according to the updated American Thoracic Society/European Respiratory Society classification. IPPFE is characterized by pleural and subpleural parenchymal fibrosis causing volume loss predominantly in the upper lung lobes. Age of onset is variable, IPPFE mainly occurs in third and fourth decades. We present a 16 year old patient with a 2-year history of exertional dyspnea, nonproductive cough and weight loss. On physical examination, auscultation revealed diminished breath sounds on the upper lobes.Chest radiograph showed apical pleural thickening and volume loss. Computerized tomographic scan (CT) of chest revealed ground glass densities and tubular bronchiectasis predominantly in upper lobes bilaterally, with interlobular septal thickening of the pleura and enlarged mediastinal lymph nodes. Thoracoscopic lung biopsy was performed and histological evaluation showed subpleural fibrosis and elastic staining demonstrated fragmented elastic fiber deposition in the subpleural area and adjacent pulmonary parenchyma suggesting IPPFE. To our knowledge this is the first case in childhood. Therefore, pediatricians should be aware of this disease for the diagnosis and appropriate management.

An adolescent with idiopathic pleuroparenchymal fibroelastosis. Case report. / Adolescente con fibroelastosis pleuroparenquimatosa idiopatica. A propòsito de un caso.

Idiopathic pleuroparenchymal fibroelastosis (IPPFE) is a rare disorder recently included in rare idiopathic interstitial pneumonias according to the updated American Thoracic Society/European Respiratory Society classification. IPPFE is characterized by pleural and subpleural parenchymal fibrosis causing volume loss predominantly in the upper lung lobes. Age of onset is variable, IPPFE mainly occurs in third and fourth decades. We present a 16 year old patient with a 2-year history of exertional dyspnea, nonproductive cough and weight loss. On physical examination, auscultation revealed diminished breath sounds on the upper lobes. Chest radiograph showed apical pleural thickening and volume loss. Computerized tomographic scan (CT) of chest revealed ground glass densities and tubular bronchiectasis predominantly in upper lobes bilaterally, with interlobular septal thickening of the pleura and enlarged mediastinal lymph nodes. Thoracoscopic lung biopsy was performed and histological evaluation showed subpleural fibrosis and elastic staining demonstrated fragmented elastic fiber deposition in the subpleural area and adjacent pulmonary parenchyma suggesting IPPFE. To our knowledge this is the first case in childhood. Therefore, pediatricians should be aware of this disease for the diagnosis and appropriate management.

La fibroelastosis pleuroparenquimatosa idiopàtica (FEPPI) es un trastorno raro incluido recientemente en las neumonías intersticiales idiopáticas según la actualización de la clasificación de la Sociedad Torácica Estadounidense (American Thoracic Society) y la Sociedad Respiratoria Europea (European Respiratory Society). La FEPPI se caracteriza por fibrosis parenquimatosa pleural y subpleural que produce reducción del volumen, sobre todo en los lóbulos pulmonares superiores. La edad al momento de la aparición varía, aunque la FEPPI ocurre principalmente entre los 30 y los 50 años de edad. En este artículo, presentamos el caso de un paciente de 16 años con antecedentes de disnea de esfuerzo, tos seca y pérdida de peso en los últimos dos años. Durante el examen físico, con la auscultación se detectó disminución de los ruidos respiratorios en los lóbulos superiores. En la radiografía de tórax se observó engrosamiento pleural apical y volumen reducido. En la tomografia computarizada (TC) del tórax se observaron densidades en vidrio esmerilado y bronquiectasia tubular predominantemente en ambos lóbulos superiores, con engrosamiento septal interlobulillar de la pleura y adenopatía mediastínica. Se realizó una biopsia pulmonar por toracoscopia y en el examen histológico se observaron fibrosis subpleural y tinción de las fibras elásticas que demostraba depósito de fibras elásticas en el área subpleural y el parénquima pulmonar adyacente, lo que sugería FEPPI. Hasta donde sabemos, este es el primer caso durante la niñez. Por lo tanto, los pediatras deben estar atentos a esta enfermedad para realizar un diagnóstico y tratamiento adecuados.

Pycnodysostosis at otorhinolaryngology.

AIM: Pycnodysostosis is a rare autosomal, recessive, skeletal dysplasia caused by a mutation in the cathepsin k gene. Pycnodysostosis is characterized by short stature, characteristic facial appearance (delayed closure of fontanelles and cranial sutures, mandibular hypoplasia and angle disorder, blue sclera), and acroosteolysis of the distal phalanges. Our aim was to describe the otorhinolaryngologic findings, differential diagnoses, various treatment options, and followup in eight cases of pycnodysostosis. METHOD: This retrospective clinical study used data from eight patients diagnosed with pycnodysostosis by a single pediatric endocrinologist primarily based on clinical and radiographic findings. All patients were referred to the otorhinolaryngology outpatient clinic by the pediatric endocrinology unit of the Marmara University between February 2013 and March 2015. Detailed medical histories were obtained in all cases and otorhinolaryngologic physical examination, blood assays, electrocardiogram, lateral skull X-rays, chest radiograph, cephalometric investigations, tympanograms, and audiograms were also carried out. Sleep videos of patients were recorded and those with upper airway problems were evaluated for sleep apnea by polysomnography. Informed consent form was obtained from the parents of all patients. RESULTS: Eight patients (7 females and 1 male) displaying proportionate dwarfism were included in the study. They had a mean age of 14.7 years (range: 13-16 y), the mean height of 141.3 cm (range 132-155 cm), and mean weight of 44.4 kg (range: 39.6-49.3 kg). All patients had facial dysmorphism with frontal bossing and the hands and feet had short digits with overlying cutaneous wrinkles that tapered off with large overriding nails. Midfacial hypoplasia and malocclusion were observed in seven of the eight patients (87.5%), four (50%) had micrognathia, and five (62.5%) had proptosis. Tympanograms and audiograms of all patients were type A and normal, and the mean of the pure tone audiogram was 13.3 dB (range: 10-16 dB). All patients had a narrow and grooved palate with disturbed dentition; two of them (25%) had mild markedness of the tongue base, five (62.5%) had grade 3 and three (37.5%) had grade 2 tonsillar hypertrophy, and five (62.5%) had adenoid hypertrophy. One patient (12.5%) had grade 3 Mallampati, four (50%) showed grade 2 Mallampati while three (37.5%) patients displayed grade 1 Mallampati score. Further, while six (75%) patients had no uvular pathology, one (12.5%) patient presented with uvular elongation and another patient had a bifid uvula. Cephalometric measurements such as PAS-UP (mean 5.67 mm; range: 5.0-7.6 mm) and PAS-TP (mean 9.61 mm; range: 8.5-12.2 mm) were lower than that of normal subjects. Video recordings showed that six of the eight patients (75%) had respiratory distress and four (50%) had sleep apnea. Polysomnography in these patients with sleep apnea showed that two had mild OSA (AHI: 18.2 and 20.1 events/hour) and two had severe OSA (AHI: 53.4 and 62.8 events/hour). For upper airway problems, an adenotonsillectomy was performed in two (25%) patients while two others required an adenoidectomy. Positive pressure ventilation was recommended in two patients with persistent sleep apnea after adeno/adenotonsillectomy. However, because of the parental objections, the follow-up polysomnographs could not be obtained. CONCLUSION: Pycnodysostosis is a very rare form of bone dysplasia. Otorhinolaryngologically, proper follow-up of these patients and appropriate treatment of upper airway problems are important to achieve an acceptable quality of life. Adeno/adenotonsillectomy and positive pressure ventilation, used as conservative approaches in treating upper airway problems, are effective and could be used instead of an aggressive surgery such as tracheotomy or maxillomandibular advancement. This study, to the best of our knowledge, is the largest ENT case series on pycnodysostosis.