Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency, hypoplastic or aplastic nasal alae, cutis aplasia on the scalp, and other features including developmental delay, failure to thrive, hearing loss, mental retardation, hypothyroidism, dental abnormalities, and anomalies in cardiac and genitourinary systems. More than 60 cases of this syndrome have been reported to date. We describe the case of a male infant with typical symptoms of JBS. In addition, a new clinical feature which has not previously been documented, that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed. A molecular study was performed which revealed a novel homozygous UBR1 mutation. Possible explanations for this new association are discussed.
Objective: To compare the accuracy of ultrasound (US) in assessing cuffed endotracheal tube (ETT) position using the suprasternal visualization approach versus chest radiography for intubated Pediatric Intensive Care Unit (PICU) patients.Methods: A prospective study was conducted between October 2014 and March 2016 on sixty-six intubated patients less than 15 years of age who met predetermined inclusion criteria. Suprasternal tracheal ultrasound was done to visualize the ETT cuff filled with saline before obtaining the routine chest radiography, the gold standard used to determine ETT position and depth. The results of two methods were compared.Results: US examination to detect the proper position of ETT as compared to chest radiography revealed a sensitivity of 91.67% (95% CI, 80.02% to 97.68%), specificity of 83.33 % (95% CI, 58.58% to 96.42%), positive predictive value of 93.62% (95% CI, 82.46% to 98.66%), negative predictive value of 78.95 % (95% CI, 54.43% to 93.95%), positive likelihood ratio of 5.50 (95% CI 1.95 to 15.51), and Negative Likelihood Ratio of 0.10 (95% CI 0.04 to 0.26).
Conclusion:Ultrasonography was found to be a more feasible, safer, and relatively quicker alternative method to determine the proper position of ETT in the trachea of PICU patients when using salinefilled ETT cuff with high sensitivity and specificity. Larger controlled studies are needed to support generalizability.
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