Citations

The prevalence, clinicopathologic correlates, and outcomes of previously untreated chronic lymphocytic leukemia (CLL) patients with IGH‐BCL2 and IGH‐BCL3 translocations are not well known. Using the Mayo Clinic CLL database, we identified patients seen between March 1, 2002 and September 30, 2016 who had FISH testing performed within 3 years of CLL diagnosis. The prognostic profile, time to first therapy (TTT), and overall survival (OS) of patients with IGH‐BCL2 and IGH‐BCL3 translocation were compared to patients without these abnormalities (non‐IGH group). Of 1684 patients who met the inclusion criteria, 38 (2.2%) had IGH‐BCL2, and 16 (0.9%) had IGH‐BCL3 translocation at diagnosis. Patients with IGH‐BCL3 translocation were more likely to have high and very‐high CLL‐International Prognostic Index, compared to patients with IGH‐BCL2 translocation and the non‐IGH group. The 5‐year probability of requiring therapy was significantly higher for IGH‐BCL3 compared to IGH‐BCL2 and non‐IGH groups (84% vs 33% vs 29%, respectively, P < 0.0001). The 5‐year OS was significantly shorter for IGH‐BCL3 compared to IGH‐BCL2 and non‐IGH groups (45% vs 89% vs 86%, respectively, P < 0.0001). On multivariable analyses, IGH‐BCL3 translocation was associated with a shorter TTT (hazard ratio [HR] = 2.7; P = 0.005) and shorter OS (HR = 5.5; P < 0.0001); IGH‐BCL2 translocation did not impact TTT and OS. In conclusion, approximately 3% of all newly diagnosed CLL patients have either an IGH‐BCL2 or IGH‐BCL3 translocation. Patients with IGH‐BCL3 translocations have a distinct prognostic profile and outcome. These results support the inclusion of an IGH probe during the routine evaluation of FISH abnormalities in newly diagnosed CLL.

Purpose: To provide practice recommendations for the diagnosis and management of hypoparathyroidism in adults. Methods: Key questions pertaining to the diagnosis and management of hypoparathyroidism were addressed following a literature review. We searched PubMed, MEDLINE, EMBASE and Cochrane databases from January 2000 to March 2018 using keywords ‘hypoparathyroidism, diagnosis, treatment, calcium, PTH, calcidiol, calcitriol, hydrochlorothiazide and pregnancy’. Only English language papers involving humans were included. We excluded letters, reviews and editorials. The quality of evidence was evaluated based on the Grading of Recommendations Assessment, Development and Evaluation (GRADE) approach. These standards of care for hypoparathyroidism have been endorsed by the Canadian Society of Endocrinology and Metabolism. Results: Hypoparathyroidism is a rare disease characterized by hypocalcemia, hyperphosphatemia and a low or inappropriately normal serum parathyroid hormone level (PTH). The majority of cases are post-surgical (75%) with nonsurgical causes accounting for the remaining 25% of cases. A careful review is required to determine the etiology of the hypoparathyroidism in individuals with nonsurgical disease. Hypoparathyroidism is associated with significant morbidity and poor quality of life. Treatment requires close monitoring as well as patient education. Conventional therapy with calcium supplements and active vitamin D analogs is effective in improving serum calcium as well as in controlling the symptoms of hypocalcemia. PTH replacement is of value in lowering the doses of calcium and active vitamin D analogs required and may be of value in lowering long-term complications of hypoparathyroidism. This manuscript addresses acute and chronic management of hypoparathyroidism in adults. Main conclusions: Hypoparathyroidism requires careful evaluation and pharmacologic intervention in order to improve serum calcium and control the symptoms of hypocalcemia. Frequent laboratory monitoring of the biochemical profile and patient education is essential to achieving optimal control of serum calcium.

Background Aortic dilation and aortic valve disease are known long-term complication of tetralogy of Fallot (TOF), but the risk of aortic dissection and the indications for prophylactic aortic surgery are unknown in this population. The purpose of this study was to: (1) determine the prevalence of significant aortic valve disease and/or significant aortic aneurysm (AVD-AA); (2) determine the incidence of progressive aortic dilation and aortic dissection in patients with TOF. Methods Retrospective review of adults with repaired TOF, and no prior aortic valve/aorta surgery, who had ≥2 measurements of the thoracic aorta >12 months apart, 1990–2017. The aortic root and mid-ascending aorta were measured at the onset of QRS complex from leading edge to leading edge. Significant aortic valve disease was defined as the presence of ≥moderate aortic stenosis and/or ≥moderate aortic regurgitation. Significant aortic aneurysm was defined as aortic root or mid-ascending aorta dimension ≥50 mm. Progressive aortic dilation was defined as increase in aortic dimension ≥2 mm. Results Of the 453 consecutive patients (37±13 years, men 216 (49%)) in the study, aortic aneurysm was present in 312 (69%) based on normative data; progressive aortic dilation occurred in 40 (9%), and there was no case of aortic dissection. Significant AVD-AA occurred in 52 (12%) patients; and 15 of them (29%) underwent aortic surgery without any surgical mortality. Conclusions Although aortic aneurysm was common, progressive aortic dilation was uncommon and aortic dissection did not occur in our patients with TOF with significant aortic aneurysms who did not undergo aortic surgery. This has important clinical implication in deciding the frequency of imaging follow-up and timing of surgical intervention in this population.

Abstract Background Nutritionally variant streptococci (NVS) are an infrequent cause of infective endocarditis (IE) and management recommendations are based on weak levels of evidence largely derived from case reports, small case series, and animal models of experimental endocarditis. Moreover, taxonomic changes have led to some confusion in designation of these organisms. Methods We retrospectively collected and analyzed data from 33 patients with NVS IE from 1970 to 2017. Only patients who met modified Duke Criteria for IE were included. Results Mean patient age was 55 years and 61% were males. The most common comorbidities included diabetes mellitus (12%), malignancy (3%), heart failure (16%), coronary artery disease (25%), and chronic liver disease (9%). Predisposing valve abnormalities included rheumatic heart disease (11%), bicuspid aortic valve (22%), transplant valvulopathy (3%), mitral valve prolapse (3%), and congenital heart disease (11%). Cultures were reported as NVS (70%), Granulicatella species (18%) and Abiotrophia species (12%). Echocardiogram findings included vegetations (67%), new regurgitation (55%), perivalvular abscess (3%), mitral valve prolapse (3%), and ruptured mitral valve chordae (3%). Both prosthetic (26%) and native valve IE (74%) was seen, and the valves involved were aortic (37%), mitral (50%) and both aortic and mitral (13%). Complications were seen in 27% of patients, including heart failure (17%), splenic infarct (11%), stroke (8%), mycotic aneurysm (3%), and glomerulonephritis (2%). In vitro susceptibility to penicillin, ceftriaxone, and vancomycin was 88%, 80%, and 100%, respectively. The majority (77%) of patients were treated with a combination of β-lactam and aminoglycoside. Median duration of treatment was 33 days. Surgery was performed in 50% of patients with no significant difference in survival between those who were treated with combined medical/surgical treatment and those treated with medical therapy alone. Overall survival at 1, 4, and 10 years was 93%, 83%, and 66%, respectively. Conclusion IE due to NVS is a rare entity and is associated with a high rate of serious complications and may involve multiple valves. Long-term, two-thirds of the patients survived more than 10 years. Disclosures All authors: No reported disclosures.