Enhanced clinical assessment of hematologic malignancies through routine paired tumor and normal sequencing.

Genomic profiling of hematologic malignancies has augmented our understanding of variants that contribute to disease pathogenesis and supported development of prognostic models that inform disease management in the clinic. Tumor only sequencing assays are limited in their ability to identify definitive somatic variants, which can lead to ambiguity in clinical reporting and patient management. Here, we describe the MSK-IMPACT Heme cohort, a comprehensive data set of somatic alterations from paired tumor and normal DNA using a hybridization capture-based next generation sequencing platform. We highlight patterns of mutations, copy number alterations, and mutation signatures in a broad set of myeloid and lymphoid neoplasms. We also demonstrate the power of appropriate matching to make definitive somatic calls, including in patients who have undergone allogeneic stem cell transplant. We expect that this resource will further spur research into the pathobiology and clinical utility of clinical sequencing for patients with hematologic neoplasms.

COVID-19 Pandemic and the Operation of a Tertiary Hospital in Tianjin-The Impact of Internet Healthcare on Hospital Business Indicators.

Objective: To explore the impact of the COVID-19 pandemic on hospital business and the contribution of Internet healthcare to hospital operations during the epidemic by analyzing the degree of impact on major business indicators. Methods: The three-year period from 2019 to 2021 was compared and analyzed, and the main medical business indicators such as outpatient and emergency visits, inpatients, operations, patient improvement rate, cure rate and fatality rate in tertiary hospitals were compared and analyzed, and the impact of the epidemic on medical services and hospital operation was analyzed. degree and the impact of Internet medical development on medical service capacity. Results: During the outbreak of COVID-19, the number of hospital outpatient and emergency visits, inpatients, and operations decreased significantly; after the normalization of the epidemic, the main medical business indicators such as outpatient and emergency visits, inpatients, and operations gradually returned to pre-epidemic levels; patient improvement rate, the cure rate and mortality rate and other indicators did not change significantly. During the epidemic period, the number of visits to the Internet outpatient clinic has increased significantly, which has significantly improved the hospital's medical service capacity. Conclusion: With the normalization of epidemic prevention and control, the main business indicators of Tianjin tertiary hospitals have gradually recovered. The operation of Internet medical care during the epidemic has changed the management and operation mode of the hospital to a certain extent, improved the main business indicators of the hospital, and eased the pressure on the hospital's economic operation.

Current clinical utilization of risk assessment tools in pulmonary arterial hypertension: a descriptive survey of facilitation strategies, patterns, and barriers to use in the United States.

Practice guidelines suggest that treatment decisions in pulmonary arterial hypertension be informed by periodic assessment of patients' clinical risk. Several tools, well validated for risk discrimination, such as the Registry to Evaluate Early and Long-term Pulmonary Arterial Hypertension Disease Management calculator, were developed to assess pulmonary arterial hypertension patients' risk of death based on multiple parameters, including functional class, hemodynamics, biomarkers, comorbidities, and exercise capacity. Using an online survey, we investigated the use of risk assessment tools by pulmonary hypertension healthcare providers in the United States. Of 121 survey respondents who make treatment decisions, 59% reported using risk assessment tools. The use of these tools was lower for non-physicians (48% vs. 65% physicians) and for practitioners at centers with 1 to 100 pulmonary arterial hypertension patients compared with centers with >100 patients (47% vs. 64%). Risk was most frequently assessed by decision makers at the time of diagnosis (cited by 54%) and at the time of worsening symptoms (cited by 42%), suggesting that use of pulmonary arterial hypertension risk assessment tools remains low. In our survey, non-physicians compared with physicians cited two major barriers to increased tool use: lack of education and training (20% vs. 4%) and lack of clarity on the best tool to use (30% vs. 18%). Information technology tools, such as electronic medical record integration and web or phone-based risk calculating applications, were cited most frequently as ways to increase the use of risk assessment tools.

Reliable Clinical MLH1 Promoter Hypermethylation Assessment Using a High-Throughput Genome-Wide Methylation Array Platform.

Clinical testing for MLH1 promoter hypermethylation status is important in the workup of patients with MLH1-deficient colorectal and uterine carcinomas when evaluating patients for Lynch syndrome. Current assays use single gene-based methods to assess promoter hypermethylation. Herein, we describe the development and report the performance of a clinical assay for MLH1 promoter hypermethylation using the Infinium methylationEPIC (850k) bead-array platform. Using four cytosine-guanine dinucleotide (CpG) sites within the MLH1 gene promoter, a qualitative MLH1 promoter hypermethylation assay was developed and validated using 63 gastrointestinal and uterine carcinoma samples of known hypermethylation status based on a pyrosequencing reference test. The array-based method achieves clinically robust and reproducible results at an analytical sensitivity level of 8%. Of importance, the 850k array contains probes targeting >850,000 additional CpG sites across the genome, covering sites in most known genes as well as important enhancer regions provided by the Encyclopedia of DNA Elements and Functional Annotation of The Mammalian Genome projects. Thus, the testing modality presented may also be applied to determine the methylation status of other clinically relevant genes or regulatory regions, potentially providing a single laboratory testing workflow for all clinical methylation assays. Furthermore, the concomitant acquisition of genome-wide methylation information provides a workflow that seamlessly enables wider translational epigenetic research.

Atherosclerotic cardiovascular disease risk assessment and predictors of statin use in Filipino-American Women.

WHAT IS KNOWN AND OBJECTIVE: Race and gender disparities in the context of appropriate treatment with lipid-lowering therapies do exist. The 2013 American College of Cardiology (ACC)/American Heart Association (AHA) guidelines outlined four groups, three for primary prevention and one for secondary prevention, whom would benefit from statin therapy to target atherosclerotic cardiovascular disease (ASCVD). The application of these recommendations in Filipino women living in the United States is unknown; however, this population is known to have elevated cardiovascular risk. Socio-economic and clinical characteristics that predict statin utilization of this Asian American subgroup need to be explored. METHODS: This was an exploratory analysis of data collected during a cross-sectional study of Filipino-American Women (FAW). The Pooled Cohort equation was used to estimate 10-year ASCVD risk. Bivariate analysis was employed to determine the association between statin treatment and clinical and socio-economic factors. Data were analysed using SAS® 9.4; statistical significance was set at P < 0.05. RESULTS AND DISCUSSION: A total of 384 women (mean age 56.3 years) were included in the original study, and the average 10-year ASCVD risk was 3.5 ± 3.7%. Upon applying the 2013 ACC/AHA guidelines, 97 FAW were categorized into one of the primary prevention groups. Women considered to benefit from a statin based on the guideline criteria but were not prescribed a statin were considered the not statin treated group (n = 55). From the original cohort, 93 FAW reported current statin therapy use and were categorized as statin treated. The clinical characteristics associated with not being statin treated were as follows: untreated blood pressure (P = 0.012), higher diastolic blood pressure (P = 0.015), higher total cholesterol (P < 0.001), higher triglycerides (P = 0.041), higher low-density lipoprotein (P < 0.001) and higher glucose (P = 0.011). The socio-economic factor associated with not being statin treated was having two or more insurance payers (P = 0.005). Overall, this population had a waist circumference and body mass index (BMI) that exceeds guidelines for Asian women (31.5 or 80 cm). WHAT IS NEW AND CONCLUSION: Predictors of statin utilization in FAW are not well documented in the literature. These findings emphasize room for improvement for the prescribing of statins in primary prevention for this study population. Applying culturally appropriate screening strategies to identify cardiovascular risk factors early such as BMI or waist circumference may assist with quantifying patients into one of the statin benefit groups if eligible.

Surgical Treatment of Supracondylar Humeral Fractures in a Freestanding Ambulatory Surgery Center is as Safe as and Faster and More Cost-Effective Than in a Children's Hospital.

BACKGROUND: Despite an 88% increase in the number of pediatric fractures treated in ambulatory surgery centers (ASCs) over a 10-year period, few studies have compared outcomes of fracture treatment performed in a freestanding ASC compared with those performed in the hospital (HOSP) or hospital outpatient department (HOPD). The purpose of this study was to compare clinical and radiographic outcomes, treatment times, and costs for treatment of Gartland type II supracondylar humeral (SCH) fracture in the ASC, HOSP, and HOPD. METHODS: Retrospective review identified pediatric patients with isolated Gartland type II SCH fractures who had closed reduction and percutaneous pinning (CRPP) by board-certified orthopaedic surgeons from January 2012 to September 2016. On the basis of the location of their treatment, patients were divided into 3 groups: HOSP, HOPD, and ASC. All fractures were treated with CRPP under fluoroscopic guidance using 2 parallel or divergent smooth Kirschner wires. Radiographs obtained before and after CRPP and at final follow-up noted the anterior humeral line index (HLI) and Baumann angle. Statistical analysis compared all 3 groups for outcomes, complications, treatment time/efficiency, and charges. RESULTS: Record review identified 231 treated in HOSP, 35 in HOPD, and 50 in ASC. Radiographic outcomes in terms of Baumann angle and HLI did not differ significantly between the groups at any time point except preoperatively when the HLI for the HOSP patients was lower (P=0.02), indicating slightly greater displacement than the other groups. Overall complication rates were not significantly different among the groups, nor were occurrences of individual complications. The mean surgical time was significantly shorter (P<0.0001) in ASC patients than in HOPD and HOSP patients, and total charges were significantly lower (P<0.001). CONCLUSIONS: Gartland type II SCH fractures can be safely treated in a freestanding ASC with excellent clinical and radiographic outcomes equal to those obtained in the HOSP and HOPD; treatment in the ASC also is more efficient and cost-effective. LEVEL OF EVIDENCE: Level III-retrospective comparative study.