BackgroundChildren’s interstitial lung diseases (chILD) cover many rare entities, frequently not diagnosed or studied in detail. There is a great need for specialised advice and for internationally ...agreed subclassification of entities collected in a register.Our objective was to implement an international management platform with independent multidisciplinary review of cases at presentation for long-term follow-up and to test if this would allow for more accurate diagnosis. Also, quality and reproducibility of a diagnostic subclassification system were assessed using a collection of 25 complex chILD cases.MethodsA web-based chILD management platform with a registry and biobank was successfully designed and implemented.ResultsOver a 3-year period, 575 patients were included for observation spanning a wide spectrum of chILD. In 346 patients, multidisciplinary reviews were completed by teams at five international sites (Munich 51%, London 12%, Hannover 31%, Ankara 1% and Paris 5%). In 13%, the diagnosis reached by the referring team was not confirmed by peer review. Among these, the diagnosis initially given was wrong (27%), imprecise (50%) or significant information was added (23%).The ability of nine expert clinicians to subcategorise the final diagnosis into the chILD-EU register classification had an overall exact inter-rater agreement of 59% on first assessment and after training, 64%. Only 10% of the ‘wrong’ answers resulted in allocation to an incorrect category. Subcategorisation proved useful but training is needed for optimal implementation.ConclusionsWe have shown that chILD-EU has generated a platform to help the clinical assessment of chILD.Trial registration numberResults, NCT02852928.
Abstract
Background
Asthma is a common respiratory disorder; some data were present on the correlation between increased levels of some elements and the risk of asthma development. It was aimed to ...evaluate the levels of 13 selected blood and tooth elements (magnesium, phosphorus, calcium, chromium, manganese, iron, copper, zinc, strontium, molybdenum, cadmium, lead, mercury) in a well-controlled asthma group and the control group.
Methods
During the study period, 17 asthma patients and 26 age and gender-matched healthy children donated shed deciduous teeth having neither decay nor filling and enrolled for the study. The element levels in blood and teeth matrixes were analyzed with inductively coupled plasma mass spectrometry. Differences in blood and tooth elements in groups were evaluated with generalized linear models after adjusting confounding factors.
Results
After adjusting the child’s “z scores of body mass index for age”, history of iron deficiency anemia, and status of parental smoking, the generalized linear model revealed significantly lower tooth magnesium levels, lower blood zinc levels, and lower blood zinc/copper ratio in the asthma group than the control group (
p
= 0.042,
p
= 0.034,
p
= 0.002, respectively). Other studied elements for tooth and blood matrixes were similar in groups.
Conclusion
Our study revealed some differences in tooth and blood element levels in the asthma group. Further studies on zinc and magnesium levels of severe asthma cases are necessary for the interpretation of the results.
Background and objective
Primary ciliary dyskinesia (PCD) is a rare and genetically heterogeneous disease and the severity of the disease related with genetic analysis has been described in some ...previous studies. The main aim of our study was to describe the clinical characteristics and laboratory findings of patients with genetically diagnosed PCD and to investigate the correlation between clinical, radiologic, and laboratory findings and genetic analyses of these patients.
Method
This is a cohort study in which we analyzed the clinical characteristics, laboratory findings, and genetic results of 46 patients with genetically diagnosed PCD through whole‐exome sequencing at our single center from a total of 265 patients with PCD within a 5‐year period.
Results
Genetic analysis revealed pathogenic variants in DNAH5 (n = 12 individuals, 12 families), CCDC40 (n = 9 individuals, six families), RSPH4A (n = 5 individuals, three families), DNAH11 (n = 4 individuals, four families), HYDIN (n = 5 individuals, five families), CCNO (n = 4 individuals, four families), DNAI1 (n = 2 individuals, one family), ARMC4 (n = 2 individuals, two families), TTC25 (n = 1), DNAH1 (n = 1), and CCDC39 (n = 1) genes. Although not statistically significant, the age at diagnosis was lower (median: 3 years; range, 6 months‐4 years) in patients with CCNO pathogenic variants due to the early reporting of symptoms, and the median body mass index (BMI) and BMI z scores were lower in patients at 18.7 and 16 kg/m2, and −0.78 and −1.2 with CCDC40 and CCNO pathogenic variants, respectively. The median forced expiratory flow in 1 second (FEV1%), forced vital capacity (FVC%), and forced expiratory flow (FEF)25‐75% were 53%, 64%, and 28%, respectively; these parameters were also lower in the CCDC40 group than in the other groups. There was no significant correlation between the genetic results and symptoms, radiologic findings, and microbiologic data of patients with PCD.
Conclusion
In PCD, there was significant heterogeneity of lung disease, patients who had pathogenic variants in CCNO presented earlier, and those with CCDC40 and CCNO had worse lung disease, and poorer nutritional status compared with the other subgroups. We hope that whole genotype‐phenotype and clinical relationships will be identified in PCD.
Abstract Aim Plastic bronchitis (PB) is a rare disorder characterized by formation of bronchial casts (BC) in the tracheobronchial tree with partial or complete airway obstruction. Although lysis of ...casts with several fibrinolytic agents has been reported, removal of BC with bronchoscope provides better clearance of airways. A retrospective study was performed to evaluate the use of serial rigid bronchoscopy (RB) in the treatment of PB in children. Patients and methods Between 2011 and 2015, children with partial or complete airway obstruction with PB were evaluated for age, gender, underlying disease, clinical findings, results of bronchoscopic interventions and histopathologic findings. Results Five patients with 14 RB interventions were evaluated. The mean age of the patients was 7.8 years (min: 3 years — max: 14 years) and male–female ratio was 4:1. All of the patients were diagnosed as asthma and none of them had underlying cardiac disease. Suction of mucus plaques and bronchoalveolar lavage were performed in all patients with flexible bronchoscopy. Also, aerosolized tissue plasminogen activator was used in two patients. During follow-up serial RB was indicated in patients with persistent atelectasis and severe airway obstruction. The most common localization of BC was left main stem bronchus and bilateral cast formation was detected in 7 interventions. Although, removal of BC was challenging in two patients because of cast friability and fragmentation, most of the plugs were successfully removed with optical forceps and rigid suctioning. Two patients underwent repeated RB (min: 3 — max: 8) for recurrent symptoms. Histopathologic evaluation of BC revealed Charcot–Leyden crystals with inflammatory cells in all patients. The time interval between RB interventions was one to five months. Conclusion BC are tenacious mucus plugs which are firmly wedged to the tracheobronchial tree. The use of optical forceps with rigid suction provides adequate removal of BC during RB. Because of underlying disease, it is difficult to cure cast formation. Therefore, most of the patients require serial RB when they become unresponsive to standard therapy or develop partial or complete airway obstruction.
Recurrent pulmonary infections, wheezing and stridor due to swallowing dysfunction, esophageal dysmotility, gastroesophageal reflux, tracheomalacia and bronchomalacia are frequently seen ...complications after esophageal atresia and tracheo-esophageal fistula (EA-TEF) surgeries. This study aimed to investigate the frequency and causes of respiratory problems and to evaluate the factors that affect respiratory morbidity in patients who had undergone EA-TEF repair in a tertiary referral center.
Preoperative and postoperative records of patients with EA, TEF + EA and isolated EA were examined retrospectively. Accompanied diseases and swallowing dysfunction symptoms were questioned. Bronchoalveolar lavage results were investigated if the patient had flexible bronchoscopy.
A total of 71 children with EA were included in the study, and seven patients who did not have follow-up after surgery were excluded. 46 of the 64 patients continue regular follow-up visits in our department. Male sex, primary EA repair in another center, EA type C, accompanying genetic anomalies, severe tracheomalacia, late per oral feeding (1 year after surgery), and severe GER were found to cause significantly higher incidence of coughing, recurrent wheezing, recurrent pneumonia, and bronchiectasis despite surgical and medical treatments (p = 0.048, p = 0.045, p = 0.009, p = 0.029, p = 0.025).
Even if anatomical anomalies are corrected by surgery in patients who underwent EA repair, precautions can be taken for GERD, laryngotracheomalacia, and swallowing dysfunction, and effective pulmonary rehabilitation can be initiated with early multidisciplinary approach before the development of respiratory tract symptoms.
Primary ciliary dyskinesia (PCD) is a genetic disease characterized by congenital impairment of mucociliary clearance causing recurrent respiratory tract infections. Pulmonary manifestations of PCD ...are well-known whereas adequate data on otorhinolaryngological complications is lacking. The aim of this study was to investigate clinical features, course and related factors of otorhinolaryngologic domains in PCD patients.
Patients with a diagnosis of PCD who were on follow-up in the ear-nose-throat (ENT) department of our center between 2000 and 2021 were enrolled. Demographic and clinical data, frequency of sinonasal and otological complaints, examination findings and possible risk factors associated with otorhinolaryngological diseases were obtained via electronic medical charts retrospectively.
Of the 121 patients, 53% were male, median age at PCD diagnosis was 7 years (1 month - 20 yrs). The most common ENT manifestation was otitis media with effusion (OME) (66.1%, n = 80), followed by acute otitis media (43.8%, n = 53), acute rhinosinusitis (ARS) (28.9%, n = 35), chronic rhinosinusitis (CRS) (27.3%, n = 33) and chronic otitis media (10.7%, n = 13). Patients with ARS and CRS were significantly older than patients who did not have ARS and CRS (p = 0.045 and p = 0.028, respectively). The annual number of ARS attacks also correlated with age of patients positively (r = 0.170, p = 0.06). Of the 45 patients with pure-tone audiometry, most common finding was conductive hearing loss (CHL) in 57,8% (n = 26). Presence of OME significantly increased tympanic membrane injury which was observed as sclerosis, perforation, retraction or changes due to ventilation tube insertion (VTI). (OR: 8.6, 95% CI: 3.6–20.3, p < 0.001).
Otorhinolaryngologic diseases are common, variable and complicated in PCD patients, consequently ENT physicians' awareness should be improved through shared experiences. ARS and CRS seem to appear in older PCD patients. Presence of OME is the most important risk factor for tympanic membrane damage.
•Primary ciliary dyskinesia (PCD) is a rare genetic disease with associating otorhinolaryngological manifestations including recurring rhinosinusitis and otitis media.•Otitis media with effusion is the most common otologic finding causing conductive hearing loss in PCD.•There is a need for diagnostic and etiologic approach for PCD patients reporting balance problems.
Objective
Diffuse alveolar hemorrhage (DAH) in children is a rare condition resulting from different underlying diseases. This study aimed at describing characteristics and diagnostic measures in ...children with ILD (children's interstitial lung disease, chILD) and DAH to improve the diagnostic approach by increasing clinician's awareness of diagnostic shortcomings.
Patients and Methods
A retrospective data analysis of patients with ILD and DAH treated in our own or collaborating centers between 01/07/1997 and 31/12/2020 was performed. Data on clinical courses and diagnostic measures were systematically retrieved as case‐vignettes and investigated. To assess suitability of diagnostic software‐algorithms, the Human Phenotype Ontology (HPO) was revised and expanded to optimize conditions of its associated tool the “Phenomizer.”
Results
For 97 (74%) of 131 patients, etiology of pulmonary hemorrhage was clarified. For 34 patients (26%), no underlying condition was found (termed as idiopathic pulmonary hemorrhage, IPH). Based on laboratory findings or clinical phenotype/comorbidities, 20 of these patients were assigned to descriptive clusters: IPH associated with autoimmune features (9), eosinophilia (5), renal disease (3) or multiorgan involvement (3). For 14 patients, no further differentiation was possible.
Conclusion
Complete and sometimes repeated diagnostics are essential for establishing the correct diagnosis in children with DAH. We suggest assignment of patients with IPH to descriptive clusters, which may also guide further research. Digital tools such as the Phenomizer/HPO are promising, but need to be extended to increase diagnostic accuracy.
Objectives
Pulmonary neuroendocrine cells (NEC) increase with age due to pulmonary maturity. The aim of this study was to determine whether open lung biopsies from patients with interstitial lung ...diseases have increased pulmonary NEC compared with neuroendocrine cell hyperplasia of infancy (NEHI). Our second aim was to assess pulmonary NECs in the lung autopsy of children without lung disease who died from different causes.
Methods
Lung tissue of 5 infants with NEHI; 21 patients with pediatric interstitial lung disease (chILD); 17 lung autopsies of infants at varying age without lung disease were included. The percentage of the airways containing neuroendocrine cells, the average percentage of neuroendocrine cells (NECs) per airway, and the number of neuroendocrine bodies (NEBs) in each case were analyzed.
Results
The mean percentage of the airways containing neuroendocrine cells were 95% in the NEHI group, 30% in the chILD group, 89% under Intrauterine 37 weeks, 70% between intrauterine 37 to 40 weeks, 52% at postnatal 4 days to 6 months of autopsy ages. In the NEHI group, diffuse NE cell distribution and large NEBs were noticed in the lung biopsy. In the chILD group, neuroendocrine cells were dispersed, did not form clusters and NE cells showed solitary distribution. In the lung autopsy group, linear NE cells were detected at younger aged fetuses and solitary distribution of NE cells was detected with the older increasing age.
Conclusions
Our findings confirm that NECs are seen in many other childhood interstitial lung diseases; NE cell hyperplasia may be a marker of decreased pulmonary development and NE cells decrease with the increasing age of the fetus during Intrauterine life.
A child presenting with bullous emphysema Özsezen, Beste; Özçelik, Uğur; Doğru, Deniz ...
The Turkish Journal of Pediatrics,
09/2022, Volume:
64, Issue:
5
Journal Article
Peer reviewed
Open access
Background. Placental transmogrification of the lung (PTL) is a clinical spectrum varying from asymptomatic to severe pulmonary impairment; such as recurrent pneumothorax, bronchopneumonia, ...respiratory distress syndrome and chronic obstructive airway disease. PTL usually presents as a bullous lesion, and rarely can appear in nodule or cyst formation on chest imaging. PTL with giant bullous emphysema has a male preference, is more commonly unilateral and mostly affects one lobe, but can rarely involve more than one lobe. Case. Here we report a 13-year-old boy presenting with bullous emphysema and coexisting with a borderline testicular tumor. He had no complaints of cough, sputum, or shortness of breath. He had a past medical history of pneumonia five years ago. In order to elucidate the underlying lung pathology, a wedge lung biopsy was performed and the patient was diagnosed with PTL. Scrotum ultrasonography was performed because of hydrocele in both testes, and bilateral epididymal cysts with papillary solid projections were reported. Pathological examination of the epididymal tumor revealed a `Mullerian type borderline epithelial neoplasm` which is an analogue of the ovarian serous borderline tumor. Conclusions. In conclusion, we reported the youngest PTL case in the literature, a rare disease with unknown pathophysiology, presenting as bullous emphysema and coincidental Mullerian type borderline epithelial neoplasm. It is important to diagnose placental transmogrification of the lung in a child with bullous emphysema because compared to other cystic lung diseases it is a benign disease and if no additional malignity exists, lobectomy or pneumonectomy is the cure for the disease.
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