Optimal strategies for carrier screening and prenatal diagnosis of α- and ß-thalassemia.

The thalassemias are inherited quantitative disorders of hemoglobin synthesis with a significant worldwide burden, which result in a wide spectrum of disease from the most severe transfusion-dependent form to the mildest asymptomatic carrier state. In this article, we discuss the importance of carrier, prenatal, and newborn screening for thalassemia. We examine the rationale for who should be screened and when, as well as the current methodology for screening. Deficiencies in the newborn screening program are highlighted as well. With the advent of inexpensive and rapid genetic testing, this may be the most practical method of screening in the future, and we review the implications of population-based implementation of this strategy. Finally, a case-based overview of the approach for individuals with the trait as well as prospective parents who have a potential fetal risk of the disease is outlined.

Prevalence of hypercoagulable states in stented thrombotic iliac vein compression syndrome with comparison of re-intervention and anticoagulation regimens.

BACKGROUND: Endovascular therapy is playing an increasing role in the treatment of iliofemoral venous disease. Iliac stent patency is multifactorial, and current management is based on best clinical practices, varying by institution. AIM: To evaluate how thrombophilia influences management and outcomes of patients who undergo venous stenting for thrombotic iliac vein compression syndromes. METHODS: A retrospective observational analysis was performed on 65 patients with thrombotic iliac vein compression syndrome that underwent common iliac vein (CIV) stenting between December 2013 and December 2019 at a large academic center. Search criteria included CIV stenting and iliac vein compression. Non-thrombotic lesions and iliocaval thrombosis and/or occlusions were excluded. A total of 65 patients were selected for final analysis. Demographic information, procedural data points, and post-procedural management and outcomes were collected. Statistical analyses included Fisher's exact and Chi-square tests to compare discrete variables and the Wilcoxon rank-sum test to compare continuous variables between thrombophilia positive and negative patients. RESULTS: 65 patients underwent successful balloon angioplasty and CIV stenting. Of these patients, 33 (50.8%) underwent thrombophilia testing, with 16 (48.5%) testing positive. Stent patency on ultrasound did not significantly differ between thrombophilia positive and negative patients at 1 mo (92.3% vs 81.3%, P = 0.6), 6 mo (83.3% vs 80%, P > 0.9), or 12 mo (77.8% vs 76.9%, P = 0.8). Immediately after stent placement, thrombophilia patients were more likely to be placed on dual therapy (aspirin and anticoagulation) or triple therapy (aspirin, clopidogrel, and anticoagulation) (50% vs 41.2%, P > 0.9), and remain on dual therapy at 6 mo (25% vs 12.5%, P = 0.5) and 12 mo (25% vs 6.7%, P = 0.6). There was no significant difference in re-intervention rates (25% vs 35.3%, P = 0.7) or number of re-interventions (average 2.3 vs 1.3 per patient, P = 0.4) between thrombophilia positive and negative patients. CONCLUSION: Half of patients with stented thrombotic iliac vein compression syndrome and thrombophilia testing were positive. The presence of thrombophilia did not significantly impact stent patency or re-intervention rates.

A Comprehensive Review of Contemporary Literature for Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors in Non-Small Cell Lung Cancer and Their Toxicity.

Mutations in the epidermal growth factor receptor (EGFR) are common amongst those with non-small cell lung cancer and represent a major factor in treatment decisions, most notably in the advanced stages. Small molecule tyrosine kinase inhibitors (TKIs) that target the EGFR, such as erlotinib, gefitinib, icotinib, afatinib, dacomitinib and osimertinib, have all shown to be effective in this setting. Osimertinib, a third-generation EGFR TKI, is a favorable option, but almost all patients develop resistance at some time point. There are no effective treatment options for patients who progress on osimertinib, but ongoing trials will hopefully address this unmet need. The aim of this review is to provide a comprehensive review of the data with EGFR TKIs, management of the toxicities and the ongoing trials with this class of agents.