A Single-Institution Experience in the Use of Chest Radiographs for Hospitalized Children Labeled as Asthma Exacerbation.

Background: Risks of diagnostic radiation have become more notable lately, particularly in young children with chronic medical conditions. This study reports on the cumulative radiation from chest radiographs in children with asthma. Its main purpose was to review our current practice and suggest minimizing the use of chest radiographs. Methods: The study was retrospective and conducted at a pediatric tertiary center. Eligibility criteria included children 2-15 y, admitted between January 2017 and December 2018 for asthma management. Results: Of the 643 children admitted as "asthma exacerbation," 243 [40% females; age (mean ± SD) 5.4±3.3 y] met the study criteria for inclusion. Ninety-two (38%) children had a temperature of 38.8±0.7°C on the day of admission. Antibiotics were prescribed for 148 (61%) children, mainly for presumed pneumonia. Chest radiographs were requested for 214 (88%) children, mainly on the day of admission. Only 38 (18%) chest radiographs showed focal/multifocal pneumonia justifying antibiotic use. Significant predictors for requesting chest radiographs were antibiotic use for presumed pneumonia, lower oxygen saturation at presentation, and a requested blood culture. The rate of chest radiographs per year was negatively related to the child's age; the younger the child the higher the rate (model coefficient -0.259, P < 0.001). For children < 5 y, the rate of chest radiographs was 1.39 ± 1.21/y and radiation dose 0.028 ± 0.025 mSv/y. The corresponding rates for children ≥5 y were 0.78 ± 0.72/y and 0.008 ± 0.007 mSv/y, respectively (P < 0.001). Conclusion: Chest radiographs were commonly requested for children with asthma, especially younger children. Prospective studies are necessary to measure the impact of this practice on the children's health.

Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease.

In the United Arab Emirates, BCG (Bacillus Calmette-Guérin) is administered to all newborns. We present here a young infant with an inborn error of immunity (IEI) who developed fatal adverse events to this live-attenuated vaccine. This male infant received BCG (Serum Institute of India Pvt., Ltd., India) on Day 11 of life. On Day 25, he developed fever, followed by cervical lymphadenitis and bilateral otitis media with fluid drainage. On Day 118, he was admitted with severe hemophagocytic lymphohistiocytosis (HLH), and passed away on Day 145. The diagnostic exome sequencing test identified a hemizygous nonsense variant, NM_000397.3(CYBB):c.676C>T, p.Arg226* (rs137854592). Pathogenic variants of CYBB [cytochrome b(-245), beta subunit; Mendelian Inheritance in Man [MIM] accession code, 300481] are known to cause "immunodeficiency 34, mycobacteriosis, X-linked" (IMD34, MIM#300645) and "chronic granulomatous disease, X-linked" (CGDX, MIM#306400). The natural history of his illness is consistent with "X-linked recessive Mendelian susceptibility to mycobacterial disease (MSMD)." This entity is responsible for his BCG disease and is a likely trigger of his HLH. This disastrous event underlines the importance of developing worldwide policies that target BCG disease prevention, especially in communities with high prevalence of IEI. Moreover, screening for genetic causes of MSMD in the community could pave the way, at least partially, for scale-up of tuberculosis (TB) prevention.

Genetic variants of small airways and interstitial pulmonary disease in children.

Genetic variants of small airways and interstitial pulmonary disease have not been comprehensively studied. This cluster of respiratory disorders usually manifests from early infancy ('lung disease in utero'). In this study, 24 variants linked to these entities are described. The variants involved two genes associated with surfactant metabolism dysfunction (ABCA3 and CSF2RB), two with pulmonary fibrosis (MUC5B and SFTP), one with bronchiectasis (SCNN1B), and one with alpha-1-antitrypsin deficiency (SERPINA1). A nonsense variant, MUC5B:c.16861G > T, p.Glu5621*, was found in homozygous state in two siblings with severe respiratory disease from birth. One of the siblings also had heterozygous SFTPA1:c.675C > G, p.Asn225Lys, which resulted in a more severe respiratory disease. The sibling with only the homozygous MUC5B variant had lung biopsy, which showed alveolar simplification, interstitial fibrosis, intra-alveolar lipid-laden macrophages, and foci of foreign body giant cell reaction in distal airspaces. Two missense variants, MUC5B:c.14936 T > C, p.Ile4979Thr (rs201287218) and MUC5B:c.16738G > A, p.Gly5580Arg (rs776709402), were also found in compound heterozygous state in two siblings with severe respiratory disease from birth. Overall, the results emphasize the need for genetic studies for patients with complex respiratory problems. Identifying pathogenic variants, such as those presented here, assists in effective family counseling aimed at genetic prevention. In addition, results of genetic studies improve the clinical care and provide opportunities for participating in clinical trials, such as those involving molecularly-targeted therapies.

Congenital cystic adenomatoid malformation: is there a difference between the antenatally and postnatally diagnosed cases?

BACKGROUND: The majority of congenital cystic adenomatoid malformation (CCAM) lesions are diagnosed antenatally. A few cases however may not be recognised antenatally and present in infancy or later childhood with chest symptoms, including chest infection. OBJECTIVE: To review the clinical and radiological spectrum of CCAM, comparing the antenatally with the postnatally diagnosed cases. MATERIALS AND METHODS: Fifteen cases of antenatally and/or postnatally diagnosed and histopathologically proven CCAM were retrospectively identified over a period of 4 years. Clinical notes, chest radiograph and chest CT were reviewed in all cases. RESULTS: Nine patients were diagnosed antenatally and six postnatally. All antenatally diagnosed patients were asymptomatic at birth, six remained asymptomatic until they had elective surgery and the remaining three developed symptoms before the age of 2 years. In the postnatally diagnosed group, one patient was symptomatic at birth and one patient presented at 16 years; the remaining four presented before the age of 2 years. Depending on the type of lesion, we recognised five radiographic patterns of CCAM. CCAM lesions were classified as CT Stocker type I in seven cases, type II in seven cases and type III in one case. CONCLUSIONS: No significant difference was found between the two groups. Recognition of these lesions antenatally would benefit patients by avoiding delay in making the diagnosis, which can lead to serious complications. CT was successful in accurately diagnosing and grading CCAM lesions.