Pediatric thermal epiglottitis: insights from a tertiary center experience.

Thermal epiglottitis, a non-infectious cause of epiglottitis, is a rare entity that shares some clinical features with infectious epiglottitis. This study presents 16 years of experience in diagnosing and managing thermal epiglottitis. A retrospective descriptive study in a tertiary center in southern Israel included confirmed cases of thermal epiglottitis in children (0-18 years) between 2004 and 2020 by endoscopy. Of approximately 600,000 pediatric ER admissions between 2004 and 2020, seven children were diagnosed by endoscopy with thermal epiglottitis (mean age 24 months, 71% males). Clinical presentation included stridor, respiratory distress, and drooling. Four children had fever and elevated inflammatory markers at presentation and were treated with systemic antibiotics. All were treated with systemic steroids. The median length of stay in the PICU was five days, and four patients required intubations. All fully recovered without experiencing any sequelae.  Conclusion: Thermal epiglottitis stands as a potential contributor to acute upper airway obstruction. Although it's rarity, it should be discussed in any child with acute upper airway obstruction. It is essential to inquire directly about the accidental intake of hot beverages, particularly in cases lacking fever or elevated inflammatory markers. What is Known: • Thermal epiglottitis is a rare, non-infectious condition sharing clinical features with infectious epiglottitis. • Common presentations include stridor, respiratory distress, and drooling. What is New: • Thermal epiglottitis is a potential contributor to acute upper airway obstruction, urging consideration even in the absence of fever or elevated markers. • Direct inquiry about hot beverage intake for diagnosis is essential for diagnosis.

Neonatal diagnosis of primary ciliary dyskinesia in a high consanguinity population: a single tertiary center experience.

Though PCD usually presents after birth in term neonates, diagnosing PCD during the neonatal and infancy stages is uncommon, particularly in children who do not exhibit laterality defects. We report our recent experience with the diagnosis of PCD in the neonatal and early infantile period in a highly consanguine population. This was achieved by implementing a novel genetic-based diagnostic approach based on direct testing for recognized regional genetic variants. We conducted a retrospective analysis of children diagnosed with PCD at Soroka University Medical Center during the neonatal or early infantile period between 2020 and 2023. We included children under 3 months of age who had a genetic confirmation of PCD, as evidenced by the presence of two pathogenic variants in recognized genes. Genetic testing targeted regional genetic variants in previously identified PCD genes. Eight patients were included. The median age at diagnosis was 12.5 days. Three (38%) were born prematurely < 34 weeks gestational age. All patients were presented with respiratory distress and hypoxemia after birth. The median duration of oxygen support was 23 days, and upper lobe atelectasis was present in five patients (63%). Congenital cardiac malformation was present in four patients. Organ laterality defects were present in four patients. Genetic mutations identified were in the DNAAF5, DNAL1, DNAAF3, and DNAH1 genes.     Conclusion: Neonatal diagnosis of PCD is uncommon, especially in atypical presentations such as children without laterality defects or preterms. Focusing on a genetic diagnosis of the local tribal pathogenic variants promotes a potential cost-efficient test leading to earlier diagnosis. There is a need for a standardized protocol for earlier diagnosis of PCD in high-consanguinity areas. What is Known: • Primary ciliary dyskinesia (PCD) typically presents after birth in term neonates. • Diagnosing PCD during neonatal and infancy stages is challenging, particularly in children without laterality defects. What is New: • A novel genetic-based diagnostic approach was implemented on the neonatal population in a highly consanguine community, focusing on direct testing for regional genetic variants, leading to early and rapid diagnosis of PCD.

Stepwise genetic approach for the diagnosis of primary ciliary dyskinesia in highly consanguineous populations.

BACKGROUND: The American Thoracic Society guidelines for the diagnosis of primary ciliary dyskinesia (PCD) consider the presence of a bi-allelic pathogenic variant confirmatory for the diagnosis of PCD, with genetic testing recommended when other confirmatory diagnostic tests are less accessible. We present our experience with genetic testing as first line with a proposed algorithm for high consanguinity populations. METHODS: Patients with a suspected diagnosis of PCD underwent genetic testing according to a diagnostic algorithm composed of three steps: (1) patients with a previously known causative familial/Bedouin tribal pathogenic variant completed direct testing for a single variant; (2) if the initial test was negative or there was no known pathogenic variant, a PCD genetic panel was completed; (3) if the panel was negative, whole exome sequencing (WES) was completed. RESULTS: Since the implementation of the protocol, diagnosis was confirmed by genetic testing in 21 patients. The majority of them were of Bedouin origin (81%) and had a positive history of consanguinity (65%). Nine patients (43%) had a sibling with a confirmed diagnosis. Most patients (15/21, 71%) were diagnosed by direct pathogenic variant testing and the remainder by genetic panel (19%) and WES (10%). Disease-causing variants were found in nine genes, with DNAL1 (24%) and DNAAF3, DNAAF5, ZMYND10 (14% each) as the most prevalent ones. CONCLUSIONS: In highly consanguineous regions, a stepwise genetic testing approach is recommended. This approach may be particularly useful in areas where the ability to obtain confirmatory diagnostic tests through other modalities is less accessible.

Elevated Neutrophil-to-Lymphocyte Ratio Is Associated with Severe Asthma Exacerbation in Children.

Asthma is the most common chronic respiratory disease in children. The neutrophil-to-lymphocyte ratio (NLR) is a marker of a chronic inflammatory state; however, data on the association of NLR with acute asthma exacerbations in children is lacking. In this cross-sectional study, between 2016 and 2021, children aged 2-18 years who were referred to the emergency department (ED) due to asthma exacerbation, were included. NLR, calculated from complete blood count upon arrival, was assessed as a continuous variable and was classified into four groups according to quartiles. The association between severity parameters and NLR quartiles was examined. A total of 831 ED visits for asthma exacerbation were included in the study. The median NLR was 1.6, 3.8, 6.7, and 12.9 in quartiles 1-4, respectively (p < 0.001). Demographic parameters, background diseases, and chronic medications were similar between the quartiles. Higher heart rate, body temperature, systolic blood pressure, and respiratory rate were observed in the higher NLR quartiles, as well as lower oxygen saturation. Higher urgency scale and higher rates of intravenous magnesium sulfate were observed in the higher NLR quartiles, with higher admission rates and prolonged hospitalizations. In summary, NLR upon admission is associated with the severity of asthma exacerbation and higher chances of hospitalization among children in the ED.

Flexible bronchoscopy in pediatric patients with Down syndrome: A case-control study of the indications, findings, and complications.

BACKGROUND: Children with Down syndrome (DS) often undergo flexible bronchoscopies (FB) due to common respiratory symptoms. OBJECTIVE: To examine the indications, findings, and complications of FB in pediatric DS patients. METHODS: A retrospective case-control study on FB performed in DS pediatric patients between 2004 and 2021 in a tertiary center. DS patients were matched to controls (1:3) based on age, gender, and ethnicity. Data collected included demographics, comorbidities, indications, findings, and complications. RESULTS: Fifty DS patients (median age 1.36 years, 56% males) and 150 controls (median age 1.27 years, 56% males), were included. Evaluation for obstructive sleep apnea and oxygen dependence were more common indications among DS (38% vs. 8%, 22% vs. 4%, p < 0.01, respectively). Normal bronchoscopy was less frequent in DS compared with controls (8% vs. 28%, p = 0.01). Soft palate incompetence and tracheal bronchus were more frequent in DS (12% vs. 3.3%, p = 0.024, 8% vs. 0.7%, p = 0.02, respectively). Complications were more frequent in DS (22% vs. 9.3%, incidence rate ratio [IRR] 2.36, p = 0.028). In DS, cardiac anomalies (IRR 3.96, p < 0.01), pulmonary hypertension (IRR 3.76, p = 0.006), and pediatric intensive care unit (PICU) hospitalization before the procedure (IRR 4.2, p < 0.001) were associated with higher complication rates. In a multivariate regression model, history of cardiac disease and PICU hospitalization before the procedure, but not DS, were independent risk factors for complications with an IRR of 4 and 3.1, respectively (p = 0.006, p = 0.05). CONCLUSION: DS pediatric patients undergoing FB are a unique population with specific indications and findings. DS pediatric patients with cardiac anomalies and pulmonary hypertension are at the highest risk for complications.

Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and Hypertrophic Cardiomyopathy-Associated Genes.

Duchenne muscular dystrophy (DMD) is a progressive muscular damage disorder caused by mutations in dystrophin gene. Cardiomyopathy may first be evident after 10 years of age and increases in incidence with age. We present a boy diagnosed at 18 months with a rare phenotype of DMD in association with early-onset hypertrophic cardiomyopathy (HCM). The cause of DMD is a deletion of exons 51-54 of dystrophin gene. The cause of HCM was verified by whole exome sequencing. Novel missense variations in two genes: MAP2K5 inherited from the mother and ACTN2 inherited from the father, or de novo. The combination of MAP2K5 , ACTN2 , and dystrophin mutations, could be causing the HCM in our patient. This is the second patient diagnosed, at relatively young age, with DMD and HCM, with novel variations in genes known to cause HCM. This study demonstrates the need for genetic diagnosis to elucidate the underlying pathology of HCM.

The effect of the COVID-19 lockdown on children with asthma-related symptoms: A tertiary care center experience.

BACKGROUND: Acute asthma exacerbations are a common cause for emergency department (ED) visits and hospitalizations in children. Since the outbreak of coronavirus disease 2019 (COVID-19) and the education system closure/total lockdown in Israel on March 2020, we have noticed a decrease in pediatric ED visits and an increase in hospitalizations of asthma exacerbations. OBJECTIVE: to examine the patterns of ED visits for asthma exacerbations during COVID-19 outbreak, in comparison to the previous year. METHODS: A retrospective study comparing asthma related ED visits and hospitalizations among children aged 2-18 years at a tertiary center in southern Israel. Three time periods were selected: 2020 A (prelockdown, 2/1/20 to 3/14/20), 2020 B (lockdown, 3/15/20 to 5/15/20) and 2020 C (postlockdown, 5/16/20 to 6/30/20) and compared to the three parallel time periods in 2019. Data regarding demographics, number of ED visits and clinical severity parameters were collected and analyzed. RESULTS: Five hundred and twelve children visited the ED for asthma exacerbation: 273 children during 2019 and 239 children during 2020. Lockdown period in 2020 revealed significantly fewer ED visits per day compared to the parallel calendar period in 2019 (1.8 vs. 1.43, p < .001). Significantly higher hospitalization rate (47.1% vs. 33.7%, p = .05) and longer length of stay (3.15 vs. 1.9 days, p = .03) were observed during the lockdown. CONCLUSION: Lockdown is associated with fewer ED visits for asthma exacerbation, probably due to; reduced exposure to viral infections and environmental allergens, decreased availability of primary physicians and families' reluctance to arrive to the ED. ED visits during lockdown were characterized by higher hospitalization rate and longer LOS.

Transvenous lead extraction with laser reduces need for femoral approach during the procedure.

INTRODUCTION: Cardiac implantable electronic device (CIED) trans venous lead extraction (TLE) is technically challenging. Whether the use of a laser sheath reduces complications and improves outcomes is still in debate. We therefore aimed at comparing our experience with and without laser in a large referral center. METHODS: Information of all patients undergoing TLE was collected prospectively. We retrospectively compared procedural outcomes prior to the introduction of the laser sheath lead extraction technique to use of laser sheath. RESULTS: During the years 2007-2017, there were 850 attempted lead removals in 407 pts. Of them, 339 (83%) were extracted due to infection, device upgrade/lead malfunction in 42 (10%) cases, and other (7%). Complete removal (radiological success) of all leads was achieved in (88%). Partial removal was achieved in another 6% of the patients. Comparison of cases prior to and after laser technique introduction, showed that with laser, a significantly smaller proportion of cases required conversion to femoral approach [31/275 (6%) laser vs. 40/132 (15%) non-laser; p<0.001]. However, success rates of removal [259/275 (94%) vs. 124/132 (94%) respectively; p = 0.83] and total complication rates [35 (13%) vs. 19 (14%) respectively; p = 0.86] did not differ prior to and after laser use. In multivariate analysis, laser-assisted extraction was an independent predictor for no need for femoral extraction (OR = 0.39; 95% CI 0.23-0.69; p = 0.01). CONCLUSION: Introduction of laser lead removal resulted in decreased need to convert to femoral approach, albeit without improving success rates or preventing major complications.