Advancing Our Understanding of the Inheritance and Transmission of Pectus Excavatum

Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating 48 pedigrees and 56 clinical traits of probands and family members, we find strong evidence of autosomal recessive, genetic control for this disorder. Additionally there is likely more than one pectus disease-associated allele, as well as a relatively large number of disease allele carriers in the human population. Some clinical traits appear important and may serve as reliable indicators for predicting the likelihood of pectus excavatum in children before severe symptoms present. Quantifying sex-ratio bias in probands demonstrates a highly significant male bias associated with pectus excavatum. When combined with pedigree data, sex-bias is indicative of sex-linked, sex-limited, and/or epigenetic control such as X-inactivation, reiterating a point made with pedigrees alone, which is that more than one mutation is likely responsible for this disorder

Emergent airway management outside of the operating room - a retrospective review of patient characteristics, complications and ICU stay.

BACKGROUND: Emergent airway management outside of the operating room is a high-risk procedure. Limited data exists about the indication and physiologic state of the patient at the time of intubation, the location in which it occurs, or patient outcomes afterward. METHODS: We retrospectively collected data on all emergent airway management interventions performed outside of the operating room over a 6-month period. Documentation included intubation performance, and intubation related complications and mortality. Additional information including demographics, ASA-classification, comorbidities, hospital-stay, ICU-stay, and 30-day in-hospital mortality was obtained. RESULTS: 336 intubations were performed in 275 patients during the six-month period. The majority of intubations (n = 196, 58%) occurred in an ICU setting, and the rest 140 (42%) occurred on a normal floor or in a remote location. The mean admission ASA status was 3.6 ± 0.5, age 60 ± 16 years, and BMI 30 ± 9 kg/m2. Chest X-rays performed immediately after intubation showed main stem intubation in 3.3% (n = 9). Two immediate (within 20 min after intubation) intubation related cardiac arrest/mortality events were identified. The 30-day in-hospital mortality was 31.6% (n = 87), the overall in-hospital mortality was 37.1% (n = 102), the mean hospital stay was 22 ± 20 days, and the mean ICU-stay was 14 days (13.9 ± 0.9, CI 12.1-15.8) with a 7.3% ICU-readmission rate. CONCLUSION: Patients requiring emergent airway management are a high-risk patient population with multiple comorbidities and high ASA scores on admission. Only a small number of intubation-related complications were reported but ICU length of stay was high