Utility of echocardiography in predicting mortality in infants with severe bronchopulmonary dysplasia

This article is made available for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.Objective: To determine the relationship between interventricular septal position (SP) and right ventricular systolic pressure (RVSP) and mortality in infants with severe BPD (sBPD). Study design: Infants with sBPD in the Children's Hospitals Neonatal Database who had echocardiograms 34-44 weeks' postmenstrual age (PMA) were included. SP and RVSP were categorized normal, abnormal (flattened/bowed SP or RVSP > 40 mmHg) or missing. Results: Of 1157 infants, 115 infants (10%) died. Abnormal SP or RVSP increased mortality (SP 19% vs. 8% normal/missing, RVSP 20% vs. 9% normal/missing, both p < 0.01) in unadjusted and multivariable models, adjusted for significant covariates (SP OR 1.9, 95% CI 1.2-3.0; RVSP OR 2.2, 95% CI 1.1-4.7). Abnormal parameters had high specificity (SP 82%; RVSP 94%), and negative predictive value (SP 94%, NPV 91%) for mortality. Conclusions: Abnormal SP or RVSP is independently associated with mortality in sBPD infants. Negative predictive values distinguish infants most likely to survive

PRIMARY CUTANEOUS LEIOMYSARCOMA

Primary cutaneous leiomyosarcoma of the skin is a rare soft tissue neoplasm, accounting for about 2–3% of all superficial soft tissue sarcomas. It arises between the ages of 50 and 70 years, and shows a greater predilection for the lower extremities. Clinically, it presents with solitary, well-circumscribed nodule and, microscopically, consists of fascicles of spindle-shaped cells with “cigar–shaped” nuclei. Local recurrence is known in this tumor. We document a case of primary cutaneous leiomyosarcoma in a 77-year-old man and discuss the histological features and immunohistochemical profile of this uncommon neoplasm

Design and Implementation of Cognitive Assessment Tool for Working Memory and Attention based on PGI Memory Scale

983-988Cognitive function is one of the most fundamental psychological functions that play a significant role in person’s daily life. Impairment in cognitive function can impacts the daily functioning and overall performance of the person. A digital application could be an accessible and convenient method for the effective evaluation of cognition. The proposed Cognitive Assessment Digital Smart Tool (CADST) evaluates the Attention (ATT) and Working Memory (WM) parameters of cognition. The outcome measures of CADST were evaluated against PGI Memory Scale (PGIMS) and Montreal Cognitive Assessment (MoCA). Usability testing for the CADST tool was performed using the Post‒Study System Usability Questionnaire (PSSUQ). A total of 30 healthy participants were recruited (women = 12, men = 18; age (M ± SD) = 35.6 ± 10.63 y. o.). The feasibility study analysis revealed a significant moderate to strong correlation between the total scores of CADST and PGIMS (r = 0.75; p < 0.001) and a low to moderate correlation between the total scores of CADST and MoCA (r = 0.44; p < 0.001). Subtests of CADST and PGIMS showed strong correlation for ATT (r = 0.81; p < 0.001) and moderate correlation for WM (r = 0.51; p < 0.001). Similarly, subtests of CADST and MoCA showed moderate correlation for ATT (r = 0.63; p < 0.001) and low correlation for WM (r = 0.24; p = 1.82). CADST showed a high correlation with PGIMS for evaluating ATT and WM symptoms of cognition provide evidence of convergent validity. CADST is the first digital smart screening tool based on PGIMS for ATT and WM using web‒based technology. The overall usability ratings showed high acceptance for system usage, interface and information quality

Racial variations in frequency and phenotypes of APC and MUTYH mutations in 6,169 individuals undergoing genetic testing

Purpose To assess whether differences in frequency and phenotype of APC and MUTYH mutations exist among racially/ethnically diverse populations. Methods: 6169 individuals with personal and/or family history of colorectal cancer (CRC) and polyps were studied. APC testing involved full sequencing/large rearrangement analysis (FS/LRA); MUTYH involved “panel testing” (for Y165C, G382D mutations), or FS/LRA, performed by Myriad Genetics, a commercial laboratory. Subjects were identified as Caucasian, Asian, African American (AA), or Other. Statistical tests included Chi-Square, Fisher’s Exact, ANOVA and z-approximation. Results: 17.5% had pathogenic APC mutations. 4.8% were biallelic MUTYH carriers. 18% were non-Caucasian with >100 adenomas and younger ages of adenoma or CRC diagnosis (p<0.0001) than Caucasians. The overall APC mutation rate was higher in Asians, AAs and Others compared to Caucasians (25.2%, 30.9%, 24%, 15.5%;p<0.0001) but similar in all groups when adjusted for polyp burden. More MUTYH biallelic carriers were Caucasian or Other than Asian or AA (5%, 7%, 2.7%, 0.3%;p<0.0001). Among Caucasians, 5% were biallelic carriers identified by panel testing versus 2% by sequencing/LRA (p=0.002). Among non-Caucasians, 3% undergoing panel testing were biallelic carriers versus 10% identified by sequencing/LRA(p<0.0002). Conclusion: Non-Caucasians undergo genetic testing at more advanced stages of polyposis and/or younger ages of CRC/polyp diagnosis. Restricted MUTYH analysis may miss significant numbers of biallelic carriers, particularly in non-Caucasians