Laryngomalacia, bronchomalacia, and tracheomalacia are commonly seen in pediatric respiratory medicine, yet their patterns and associations with other conditions are not well-understood. We prospectively video-recorded bronchoscopic data and clinical information from referred patients over a 10-year period and defined aspects of interrelationships and associations. Two hundred and ninety-nine cases of malacia disorders (34%) were observed in 885 bronchoscopic procedures. Cough, wheeze, stridor, and radiological changes were the most common symptoms and signs. The lesions were most often found in males (2:1) and on the left side (1.6:1). Concomitant malacia lesions ranged from 24% for laryngotracheobronchomalacia to 47% for tracheobronchomalacia. The lesions were found in association with other disorders such as congenital heart disorders (13.7%), tracheo-esophageal fistula (9.6%), and various syndromes (8%). Even though the understanding of these disorders is in its infancy, pediatricians should maintain a level of awareness for malacia lesions and consider the possibility of multiple lesions being present, even when one symptom predominates or occurs alone.

There is currently no validated scoring system for quantification of airway secretions in children. A user friendly, valid scoring system of airway secretions during flexible bronchoscopy (FB) would be useful for comparative purposes in clinical medicine and research. The objective of this study was to validate our bronchoscopic secretion (BS) scoring system by examining the relationship between the amount of secretions seen at bronchoscopy with airway cellularity and microbiology. In 106 children undergoing FB, the relationship of BS grades with bronchocalveolar lavage (BAL) cellularity and infective state (bacterial and viral infections) were examined using receptor operator curves (ROC). BAL was obtained according to European Respiratory Society guidelines; first lavage for microbiology and second lavage for cellularity. Area under the ROC was significant for total cell count (TCC) and neutrophil % but not for lymphocyte %. BS grade significantly related to infection positive state (chi(trend) (2) = 5.85, P = 0.016). The area under the ROC for infection positive state versus BS grade was 0.645, 95% CI 0.527-0.763. The BS scoring system is a valid method for quantifying airway secretions in children undergoing bronchoscopy. The system related well to airway cellularity and neutrophilia, as well as to an airway infective state. However, the system is only complementary to cell counts and cultures and cannot replace these laboratory quantification techniques.

Context P450 oxidoreductase deficiency (PORD) is a rare genetic disorder that is associated with significant morbidity. However there has been limited analysis of reported PORD cases. Objective To determine, based on the cohort of reported PORD cases, genotype-phenotype relationships for skeletal malformations, maternal virilisation in pregnancy, adrenal insufficiency, and disorders of sexual development (DSD). Data Sources PubMed and Web of Science from January 2004 to February 2018. Study Selection Published case reports/series of patients with PORD. Eligible patients were unique, had biallelic mutations, and their clinical features were reported. Data Extraction Patient data were manually extracted from the text of case reports/series. A malformation score, representing the severity of skeletal malformations, was calculated for each patient. Data Synthesis Of the 211 patients published in the literature, 90 were eligible for inclusion. More than 60 unique mutations were identified in this cohort. Four groups of mutations were identified, through regression modeling, as having significantly different skeletal malformation scores. Maternal virilization in pregnancy, reported for 21% of patients, was most common for R457H mutations. Adrenal insufficiency occurred for the majority of patients (78%) and was typically mild, with homozygous R457H mutations being the least deficient. DSD affected most patients (72%), but were less common for males (46XY) with homozygous R457H mutations. Conclusions PORD is a complex disorder with many possible mutations affecting a large number of enzymes. By analyzing the cohort of reported PORD cases, this study identified clear relationships between genotype and several important phenotypic features.

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