Diagnosis of primary immunodeficiency diseases in the developing world: the need for education and networking with the developed world.

PURPOSE OF REVIEW: Even with the evident improvement in knowledge about clinical and molecular aspects and the technology used to diagnose primary immunodeficiency diseases (PIDs), there is still a significant delay in recognition of these diseases in the developing world, specifically in Latin America. In this review, the goal is to outline the challenges that need to overcome for the diagnosis of PIDs and the optimization of resources available based on our experience. RECENT FINDINGS: We describe the advances achieved in the past decade in Latin America in terms of recognition of PIDs, as well as the need for improvement. We outline the need for continued medical education, the lack of resources for laboratory testing, and how genetic testing through next-generation sequencing (that is becoming a day-to-day tool) can be achieved in the developing world. SUMMARY: We aim to gather information about the limitations and challenges for the diagnosis of PIDs in a low-resource environment and the opportunities to benefit from the available advanced tools for diagnosis.

Use of high-flow nasal cannula and intravenous propofol sedation while performing flexible video bronchoscopy in the intensive care unit: Case reports.

Flexible video bronchoscopy is a procedure that plays an important role in diagnosing various types of pulmonary lesions and abnormalities. Case 1 is a 68-year-old male patient with a lesion in the right lung apex of approximately 4 mm × 28 mm with atelectasis bands due to a crash injury. High-flow system with 35 L/min and fraction of inspired oxygen (FiO2) 0.45 and temperature of 34 °C was installed prior to the video bronchoscopy. SpO2 was maintained at 98%-100%. The total dose of sedative was 50 mg of propofol. In Case 2, a 64-year-old male patient with bronchiectasis, cystic lesions and pulmonary fibrosis of the left lung field was placed on a high-flow system with 45 L/min and 0.35 FiO2 at a temperature of 34 °C. SpO2 was maintained at 100%. The total duration of the procedure was 25 min; SpO2 of 100% was sustained with oxygenation during maintenance time with the flexible bronchoscope within the airway. The total dose of propofol to reach the degree of desired sedation was 0.5-1 mg/kg. Both patients presented hypotension. For the patient of case 1, a vasopressor (norepinephrine at doses of 0.04 µg/kg/min) was given, and for the patient of case 2, only saline volume expansion was used. The video bronchoscopy with propofol sedation and high-flow nasal cannula allows adequate oxygenation during procedure in the intensive care unit.

A focus on the use of subcutaneous C1-inhibitor for treatment of hereditary angioedema.

INTRODUCTION: HAE is a very debilitating disease that causes significant distress for patients not only during an acute attack but also constant fear for a subsequent attack. It is important to address long-term prophylactic (LTP) therapy to prevent attacks, decrease morbidity and increase the quality of life. When discussing LTP, the drug burden, convenience and efficacy must be taken into account. AREAS COVERED: We review the literature and the different phases of clinical trials leading up to approval by the US FDA of subcutaneous highly concentrated C1-Inhibitor (SC-C1-INH), called Haegarda. The dose approved is of 60 IU/kg twice weekly showing significant improvement in the reduction of attacks and need for on-demand therapy for attacks with minimal side effects. EXPERT OPINION: SC-C1-INH has added significantly to the armamentarium of physicians that treat HAE. The ability to achieve a steady state of C1-INH above 40% function is key to the success of the drug. The drug burden is an SC injection twice a week that exceeds the newly approved lanadelumab. The benefit may be that the protein that is deficient in HAE is replaced and with this the complement, fibrinolytic, coagulation pathways, and contact system are also regulated; however, evidence that this is of benefit is still lacking.