Chronic cough with normal sweat chloride: Phenotypic descriptions of two rare cystic fibrosis genotypes

AbstractWhile our understanding of cystic fibrosis genetics has expanded in recent decades, the genetics and clinical manifestations of the disease remains highly heterogeneous. Diagnosis of CF in non-classical mutations remains a clinical challenge. We describe the clinical presentation of two patients with chronic cough found to have normal sweat chlorides. We discuss the subsequent evaluation that lead to the diagnosis of two rare CF mutations. We briefly discuss the use of the expanded 106-panel of CF mutations (homozygous 3849 + 10  kb C > T), and the role of whole CFTR gene sequencing (heterozygous c.2752-26 A > G/5T)

Tension chylothorax following pneumonectomy

AbstractPost-pneumonectomy chylothorax is an uncommon complication following surgery, with an estimated incidence of less than 0.7%. Post-pneumonectomy tension chylothorax, where rapid accumulation of chyle in the post-pneumonectomy space results in hemodynamic compromise, is exceedingly rare, with just 7 cases previously reported. All prior cases of tension chylothorax were managed operatively with decompressive chest tube placement followed by open thoracic duct repair. Our case is the first reported tension chylothorax to be managed conservatively by thoracostomy drainage coupled with a period of parenteral nutrition followed by a medium chain triglyceride-restricted diet

Contrasting effect of different cardiothoracic operations on echocardiographic right ventricular long axis velocities, and implications for interpretation of post-operative values

AbstractBackgroundPatients undergoing coronary artery bypass grafting (CABG) experience a reduction in right ventricular long axis velocities post surgery.ObjectivesWe tested whether the phenomenon of right ventricular (RV) long axis velocity decline depends on the chest being opened fully by mid-line sternotomy, pericardial incision, or on the type of operation performed.MethodBy intraoperative transoesophageal echocardiography (TEE) we recorded serial right ventricular (RV) systolic pulse-wave tissue Doppler velocities during 6 types of elective procedure: 53 CABG surgery, 15 robotic-assisted minimally-invasive CABG (RCABG), 28 aortic valve replacement (AVR), 8 minimally-invasive aortic valve replacement (mini-AVR), 5 mediastinal mass excision, and 1 left atrial myxoma excision. Pre and post operative transthoracic echocardiography (TTE) were also conducted.ResultsSurgery without substantial opening of the pericardium did not significantly reduce RV systolic velocities (RCABG 13±1.8 versus 12.4±2.7cm/s post; mini-AVR 11.9±2.3 versus 11.1±2.3cm/s; mediastinal mass excision 13.9±3.1 versus 13.8±4cm/s). In contrast, within 5min of pericardial incision those whose surgery involved full opening of the pericardium had large reductions in RV velocities: 54±11% decline with CABG (11.3±1.9 to 5.1±1.6cm/s, p<0.0001), 54±5% with AVR (12.6±1.4 to 5.7±0.6cm/s, p<0.001) and 49% with left atrial myxoma excision (11.3 to 15.8cm/s). This persisted immediately after pericardial opening to the end of surgery (61±11%, p<0.0001; 58±7%, p<0.0001; 59% respectively).ConclusionsIt is full opening of the pericardium, and not cardiac surgery in general, which causes RV long axis decline following cardiac surgery. The impact is immediate (within 5min) and persistent

Tension chylothorax following pneumonectomy

Post-pneumonectomy chylothorax is an uncommon complication following surgery, with an estimated incidence of less than 0.7%. Post-pneumonectomy tension chylothorax, where rapid accumulation of chyle in the post-pneumonectomy space results in hemodynamic compromise, is exceedingly rare, with just 7 cases previously reported. All prior cases of tension chylothorax were managed operatively with decompressive chest tube placement followed by open thoracic duct repair. Our case is the first reported tension chylothorax to be managed conservatively by thoracostomy drainage coupled with a period of parenteral nutrition followed by a medium chain triglyceride-restricted diet

Validation of Computerized Automatic Calculation of the Sequential Organ Failure Assessment Score

Purpose. To validate the use of a computer program for the automatic calculation of the sequential organ failure assessment (SOFA) score, as compared to the gold standard of manual chart review. Materials and Methods. Adult admissions (age > 18 years) to the medical ICU with a length of stay greater than 24 hours were studied in the setting of an academic tertiary referral center. A retrospective cross-sectional analysis was performed using a derivation cohort to compare automatic calculation of the SOFA score to the gold standard of manual chart review. After critical appraisal of sources of disagreement, another analysis was performed using an independent validation cohort. Then, a prospective observational analysis was performed using an implementation of this computer program in AWARE Dashboard, which is an existing real-time patient EMR system for use in the ICU. Results. Good agreement between the manual and automatic SOFA calculations was observed for both the derivation (N=94) and validation (N=268) cohorts: 0.02 ± 2.33 and 0.29 ± 1.75 points, respectively. These results were validated in AWARE (N=60). Conclusion. This EMR-based automatic tool accurately calculates SOFA scores and can facilitate ICU decisions without the need for manual data collection. This tool can also be employed in a real-time electronic environment

Hydrocortisone, Vitamin C and thiamine for the treatment of sepsis and septic shock following cardiac surgery

Background and Aims: The effect of vitamin C on vasopressor requirement in critically ill patients have been evaluated previously. We aimed to evaluate the effect of vitamin C, hydrocortisone and thiamine on vasopressor requirement and mortality in post-operative adult cardiac surgical patients with septic shock. Methods: About 24 patients with septic shock were randomised into Group 1 (receiving matching placebo per day for 4 days) and Group 2 (receiving 6 g vitamin C, 400 mg thiamine and 200 mg hydrocortisone per day for 4 days). Vasopressor dose over 4 days of therapy was the primary endpoint, whereas in-hospital mortality was the secondary endpoint. Results: APACHE IV and EUROSCORE II scores were similar between both the groups. Significant reductions in the requirement of vasopressin (difference from day 1 – 0.0008 ± 0.00289 vs 0.0033 ± 0.00492 units/kg/min; P = 0.019) and noradrenaline (difference from day 1 – 0.0283 ± 0.040 vs 0.023 ± 0.035 μg/kg/min; P = 0.006) were observed with vitamin C treatment as compared to control group. PCT levels on Day 3 (68.11 ± 33.64 vs 33.2 ± 27.55 ng/mL; P = 0.0161) and Day 4 (70.03 ± 29.74 vs 26.3 ± 23.08 ng/mL; P = 0.0009) were significantly lower in treatment group as compared to control. However, there was no difference in the Sepsis-Related Organ Failure Assessment (SOFA) score and mortality between the studied groups. Conclusion: Combination of vitamin C, thiamine and hydrocortisone reduces vasopressor requirement in adult cardiac surgical patients with septic shock

Diagnosis and outcome of acute respiratory failure in immunocompromised patients after bronchoscopy

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Characterization of Platelet Biologic Markers in the Early Pathogenesis of Postoperative Acute Respiratory Distress Syndrome

IMPORTANCE:. Animal models and limited human studies have suggested a plausible role for platelets in the pathogenesis and resolution of acute respiratory distress syndrome (ARDS). However, there are little data regarding the role of platelets in ARDS development. OBJECTIVES:. The objective of this study was to characterize the role of platelets in a postoperative ARDS model through an analysis of two platelet-specific biologic markers: thromboxane A2 (TxA2) and soluble CD-40-ligand (sCD40L). DESIGN, SETTING, AND PARTICIPANTS:. This was a nested case-control study of ARDS cases matched to non-ARDS controls. Blood samples were collected from a cohort of 500 patients undergoing thoracic, aortic vascular, or cardiac surgery that placed them at high-risk of developing postoperative ARDS. MAIN OUTCOMES AND MEASURES:. TxA2 and sCD40L were analyzed at baseline (prior to surgical incision) as well as 2 hours and 6 hours after the key intraoperative events believed to be associated with increased risk of postoperative ARDS. RESULTS:. Of 500 patients enrolled, 20 ARDS cases were matched 1:2 to non-ARDS controls based on age, sex, surgical procedure, and surgical lung injury prediction score. Those who developed ARDS had longer surgeries, greater fluid administration, and higher peak inspiratory pressures. There were no significant differences in levels of TxA2 or sCD40L at baseline, at 2 hours, or at 6 hours. There was also no difference in the change in biomarker concentration between baseline and 2 hours or baseline and 6 hours. CONCLUSIONS:. Two novel platelet-associated biologic markers (TxA2 and sCD40L) were not elevated in patients who developed ARDS in a postoperative ARDS model. Although limited by the relatively small study size, these results do not support a clear role for platelets in the early pathogenesis of postoperative ARDS

Improving quality of intrapartum and immediate postpartum care in public facilities: experiences and lessons learned from Rajasthan state, India

Abstract Background In spite of considerable improvement in maternal and neonatal outcomes over the past decade in India, the current maternal mortality ratio and neonatal mortality rate are far from the Sustainable Development Goal targets due to suboptimal quality of maternity care. A package of interventions for improving quality of intrapartum and immediate postpartum care was co-designed with the Ministry of Health as the Dakshata program and implemented in public sector health facilities in selected districts in the state of Rajasthan of India since June 2015. This article describes the key strategies, interventions, results and challenges from four years of Dakshata program implementation. Methods We have conducted secondary analysis of program data (government data) collected from 202 public facilities across 20 districts of Rajasthan state. The data collected between June–August 2015 (baseline) and the data collected between May-August 2019 (latest) were analyzed. The data sources included: facility assessments, service statistics, monthly progress reports. Results During the period of program implementation, there were 17,94,249 deliveries accounting for 70% of institutional deliveries in intervention districts. As a result of the intervention, there was a notable increase in competency of health care providers, availability of essential resources, achievement of labour room standards and adherence to evidence-based clinical standards. We also observed reductions in the proportion of referrals for pre-eclampsia/eclampsia, postpartum hemorrhage and neonatal asphyxia by 11, 8 and 3 percentage points respectively. Similarly, data revealed a reduction in stillbirth rates in Dakshata intervention facilities (19.3 vs 15.3) compared to non-Dakshata facilities (21.8 vs 18). Conclusions Our experience and findings indicate that the quality of intrapartum and immediate postpartum care can be improved in low- and middle-income countries with the approach presented in this paper