A Unique Case of a Compound Heterozygosity of Hemoglobin Korle-Bu and Sickle Cell Trait in a Military Trainee.

Hemoglobin Korle-Bu (Hb KB) is a rare and likely under-reported hemoglobin (Hb) variant resulting from an unusual point mutation on the beta-globin chain. Hb KB is typically clinically silent, and there are limited reports of Hb KB heterozygosity compounded with other hemoglobinopathies that can present with varying clinical phenotypes. Here, we report a case of compound Hb KB heterozygosity with Hb S in an asymptomatic military trainee with a positive sickle cell screening test. Hb capillary and gel electrophoresis predicted a compound Hb S/D-Punjab overlap, which foretells a severe clinical phenotype. Sequencing of the Hb beta gene HBB demonstrated Hb KB, allowing for a diagnosis that fit his asymptomatic clinical phenotype and allowed for retention in the military.

Myeloid/Lymphoid Neoplasm with FGFR1 Rearrangement Presenting with Polycythemia Vera and T-cell Acute Lymphoblastic Leukemia.

Myeloid/lymphoid neoplasm with fibroblast growth factor 1 rearrangements (MLN-FGFR1) represents a rare group of hematologic neoplasms, with approximately 100 cases reported to date. A 69-year-old woman with a history of polycythemia and leukocytosis, with negative molecular testing for JAK2, CALR, and MPL, presented with diffuse adenopathy. A lymph node (LN) biopsy revealed effacement by T-lymphoblasts, consistent with T-cell acute lymphoblastic lymphoma (T-ALL). A staging bone marrow (BM) biopsy demonstrated trilineage hyperplasia, which, taken together with the patient's elevated hemoglobin and low serum erythropoietin level, fulfilled diagnostic criteria for polycythemia vera. Karyotype and fluorescence in situ hybridization on both the BM and LN demonstrated a FGFR1 rearrangement due to t(8;13), consistent with MLN-FGFR1. Whole genome sequencing on the LN additionally identified a pathogenic frameshift mutation of ASXL1 NC_000020.11:g32434646dup NM_015338.6(ASXL1):c.1934dup p.(Gly646Trpfs) predicted to result in loss of protein function, a finding also observed in 8.1% of BM reads. Both the BM and LN harbored missense variants in HDAC4 NM_001378414.1(HDAC4):c.[2763G>A]; [2763=] p.(Met921Ile) and CHEK2 NM_007194.4(CHEK2):c.[538C>T];[538=] p.(Arg180Cys), with an unknown significance. Despite initial response to Mini-CVD + venetoclax, the patient subsequently experienced rapid clinical deterioration and death. We report the second case of MLN-FGFR1 with an ASXL1 mutation and the first case with HDAC4 and CHEK2 variants.

The quantra hemostasis analyzer compared to thromboelastography (TEG) in the surgical oncologic population: A prospective observational trial.

BACKGROUND: Management of coagulopathy during major oncologic surgery can be multifactorial and challenging. Viscoelastic assays (VEAs) can be useful in providing vital data about the mechanism of coagulopathy in these dynamic circumstances. OBJECTIVES: A prospective nonrandomized observational study with the aim of describing the coagulation parameters of patients undergoing major oncologic surgery using the Quantra® and TEG® 5000 systems. Our secondary objectives included the correlation between Quantra and TEG parameters, and the times to result for both technologies. METHODS: This study included 74 adults undergoing oncologic surgery with an anticipated blood loss of more than 500 ml. For each subject, whole blood samples for each device were collected at multiple points perioperatively for comparison. RESULTS: Correlation coefficients between Quantra and TEG parameters were 0.8 and above, indicating a very strong correlation (p < .001). Correlation coefficients between conventional laboratory tests and Quantra ranged from 0.74 to 0.83, indicating a moderate correlation (p < .001). The mean time to obtain results and total processing time was shorter for Quantra in comparison to TEG. CONCLUSIONS: Quantra parameters strongly correlated with TEG parameters; however, Quantra parameters were available in shorter amount of time as it is specifically designed as a closed point of care device.

Simultaneous Sigmoid Colectomy, Bilobar Liver Resection and Lung Metastasectomy via a Transdiaphragmatic Approach for Stage IV Colonic Adenocarcinoma.

BACKGROUND: Current evidence supports the curative resection of colorectal cancer and synchronous liver and lung metastases in selected patients.1,2 This video shows simultaneous left colectomy, bilobar liver resection, and lung metastasectomy via a transdiaphragmatic approach for stage IV colorectal cancer.3 PATIENT: A 57-year-old man with a stage IV colonic adenocarcinoma was considered for simultaneous resection of primary, liver, and lung metastases without thoracic incision. The tumor mutational status was KRAS, NRAS, and BRAF wild-type, and the patient underwent preoperative chemotherapy. TECHNIQUE: After performing a midline laparotomy, atypical liver resection of segments 8/4a was performed under the guidance of intraoperative ultrasonography and intermittent Pringle maneuver using the two-surgeon's technique. A small capsular lesion in segment 3 also was intraoperatively detected and resected. Lung metastasectomy of the right lower lobe was performed via a transdiaphragmatic approach using an endoscopic stapler. Sigmoid colectomy with transanal circular-stapled anastomosis was performed. Duration of surgery and blood loss were 358 min and 400 ml, respectively. Histopathological examination showed metastatic colonic adenocarcinoma with negative surgical margins and final stage was T3N2aM1b. The patient was discharged on postoperative day 6 without complication. He was alive and free of disease at 90-day follow-up. CONCLUSIONS: Simultaneous colon, liver, and lung resection via a transdiaphragmatic approach is a feasible and safe surgical strategy in selected patients with peripheral lung metastases and favorable tumor biology.4 This surgical strategy avoids thoracic incision, multiple operations, and may reduce the healthcare costs and the recovery time to early implement postoperative therapy.

Pulmonary Microscopic Polyangiitis Presenting as Acute Respiratory Failure from Diffuse Alveolar Hemorrhage.

Microscopic polyangiitis and granulomatosis with polyangiitis are rare anti-neutrophilic cytoplasmic antibody-associated systemic vasculitides that predominantly affect small to medium sized vessels of the lungs and kidneys. These syndromes are largely confined to older adults and often present sub-acutely following weeks to months of nonspecific prodromal symptoms. While both diseases often manifest within multiple organ systems concurrently, the disease spectrum of microscopic polyangiitis almost always includes the kidneys, while granulomatosis with polyangiitis is most commonly associated with pulmonary disease. We present two cases of rapid onset respiratory failure secondary to diffuse alveolar hemorrhage in young active duty military personnel. After serological testing and surgical lung biopsy, both patients were diagnosed with microscopic polyangiitis with isolated pulmonary involvement.

A multi-institutional pilot survey of anesthesia practices during proton radiation therapy.

BACKGROUND AND PURPOSE: Physicians responsible for anesthesia and/or sedation (A/S) at emerging proton radiation therapy centers (PTCs) seek information about practices at established centers. We conducted a survey of A/S practices at established PTCs to provide this information for physicians at new PTCs. METHODS AND MATERIALS: A web-based survey was sent to physicians responsible for A/S at 37 established PTCs. Questions were based on practice patterns and the preferred method of A/S delivery during proton-radiation therapy. One representative per institution was surveyed. RESULTS: A response rate of 38%, with a combined case load of more than 15,000 anesthetics per year was obtained. Children younger than 4 years old often (72%) required A/S. The most favored A/S techniques involved total intravenous anesthesia with propofol and an unprotected airway (57%) or general anesthesia with sevoflurane and a laryngeal mask airway (36%). It was notable that 21% of facilities did not have dedicated recovery rooms. Also, anesthesia gas evacuation outlets were absent at 43% of treatment rooms. CONCLUSIONS: A/S is commonly delivered to patients undergoing proton radiation therapy, most often with total intravenous anesthesia. To avert potential obstacles to the safe delivery of care, anesthesiologists at emerging centers are encouraged to participate throughout the design and planning phases of new PTCs.

Acute multilineage (B/myeloid) leukemia with RUNX1 duplication/amplification and hypereosinophilia.

A 14-year-old girl presented with myalgias and decreased energy and was found to have a white count of 73,000 with 75% eosinophils. Flow cytometry and immunostains showed the blasts in the bone marrow expressed both myeloid and lymphoid markers. Patient was diagnosed with acute multilineage (B/Myeloid) leukemia. Genetic testing revealed four copies of the RUNX1 gene region in 25.5%, with a normal karyotype and no evidence of t(8;21) or t(12;21) by fluorescence in situ hybridization. RUNX1 translocations and amplifications have been implicated in acute myeloblastic leukemia, acute lymphoblastic leukemia, and MDS, but have not yet been seen with acute multilineage leukemia. Additionally, it is unclear what the risk stratification of this unique presentation will turn out to be.

In vitro evaluation of a novel system for monitoring surgical hemoglobin loss.

BACKGROUND: Accurate measurement of intraoperative blood loss is an important clinical variable in managing fluid resuscitation and avoiding unnecessary transfusion of blood products. In this study, we measured surgical blood loss using a tablet computer programmed with a unique algorithm modeled after facial recognition technology. The aim of the study was to assess the accuracy and performance of the system on surgical laparotomy sponges in vitro. METHODS: Whole blood samples of premeasured hemoglobin (Hb) and volume were reconstituted from units of human packed red blood cells and plasma and distributed across surgical laparotomy sponges. Normal saline was added to simulate the presence of varying levels of hemodilution and/or irrigation use. Soaked sponges from 4 different manufacturers were scanned using the Triton System with Feature Extraction Technology (Gauss Surgical, Inc., Palo Alto, CA) under 3 different ambient light conditions in an operating room. Accuracy of Hb loss measurement was evaluated relative to the premeasured values using linear regression and Bland-Altman analysis. Correlations between studied variables and measurement bias were analyzed using nonparametric tests. RESULTS: The overall mean percent error for measure of Hb loss for the Triton System was 12.3% (95% confidence interval [CI], 8.2%-16.4%). A strong positive linear correlation between the premeasured and actual Hb masses was noted across the full range of intraoperative lighting conditions, including (A) high (r = 0.95 [95% CI, 0.93-0.96]), (B) medium (r = 0.94 [95% CI, 0.93-0.96]), and (C) low (r = 0.90 [95% CI, 0.87-0.93]) mean ambient light intensity. Bland-Altman analysis revealed a bias of 0.01 g [95% CI, -0.03 to 0.06 g] of Hb per sponge between the 2 measures. The corresponding lower and upper limits of agreement were -1.16 g (95% CI, -1.21 to -1.12 g) per sponge and 1.19 g (95% CI, 1.15-1.24 g) per sponge, respectively. Measurement bias of estimated blood loss and Hb mass using the new system were not associated with the volume of saline used to reconstitute the samples (P = 0.506 and P = 0.469, respectively), suggesting that the system is robust under a wide range of sponge saturation conditions. CONCLUSIONS: Mobile blood loss monitoring using the Triton system is accurate in assessing Hb mass on surgical sponges across a range of ambient light conditions, sponge saturation, saline contamination, and initial blood Hb. Utilization of this tool could significantly improve the accuracy of blood loss estimates.

Clinical evaluation of a novel system for monitoring surgical hemoglobin loss.

BACKGROUND: Accurate measurement of intraoperative blood loss is an important clinical variable in managing fluid resuscitation and avoiding unnecessary transfusion of blood products. In this study, blood lost onto laparotomy sponges during surgical cases was measured using a tablet computer programmed with a unique algorithm modeled after facial recognition technology. In this study, we assessed the accuracy and performance of the system in surgical cases. METHODS: In this prospective, multicenter study, 46 patients undergoing surgery with anticipated significant blood loss contributed laparotomy sponges for hemoglobin (Hb) loss measurement using the Triton System with Feature Extraction Technology (Gauss Surgical, Inc., Los Altos, CA). The Hb loss measured by the new system was compared with that measured by manual rinsing of the sponges. Accuracy was evaluated using linear regression and Bland-Altman analysis. In addition, the new system's calculation of blood volume loss was compared with the gravimetric method of estimating blood loss from intraoperative sponge weights. RESULTS: A significant positive linear correlation was noted between the new system's measurements and the rinsed Hb mass (r = 0.93, P < 0.0001). Bland-Altman analysis revealed a bias of 9.0 g and narrow limits of agreement (-7.5 to 25.5 g) between the new system's measures and the rinsed Hb mass. These limits were within the clinically relevant difference of ±30 g, which is approximately half of the Hb content of a unit of allogeneic whole blood. Bland-Altman analysis of the estimated blood loss on sponges using the gravimetric method demonstrated a bias of 466 mL (overestimation) with limits of agreement of -171 and 1103 mL, due to the presence of contaminants other than blood on the laparotomy sponges. CONCLUSIONS: The novel mobile monitoring system provides an accurate measurement of Hb mass on surgical sponges as compared with that of manual rinsing measurements and is significantly more accurate than the gravimetric method. Further study is warranted to assess the clinical use of the technology.

Awake insertion of the Bonfils Retromolar Intubation Fiberscope in five patients with anticipated difficult airways.

Traditionally, an awake intubation is performed by flexible fiberoptic laryngoscopy. However, many new devices have been developed to assist anesthesiologists with both routine and difficult airway management, one of which is the Bonfils Retromolar Intubation Fiberscope. This device may be more beneficial than the flexible fiberoptic laryngoscope since it can readily navigate through soft tissue and physically lift airway structures, is more affordable, durable, and easier to clean. This case series demonstrates successful use of the Bonfils Scope in five patients for awake orotracheal intubation with anticipated difficult airways.