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Background: Rhabdomyomas are rare tumours in children often associated with tuberous sclerosis. They are usually diagnosed during antenatal period as an incidental finding. Case presentation: The first case is a 2.5-month-old who was diagnosed to have rhabdomyomas at gestational age of 24 weeks. Electrocardiogram revealed left axis deviation and multiple premature atrial contractions. Echocardiography showed massive tumour occupying the right ventricular cavity. Tuberous sclerosis was seen on magnetic resonance imagery. He was commenced on Everolimus with obvious regression of tumour. The second case is an 8-month-old male who was referred to us for cardiac evaluation. Echocardiography showed two masses of rhabdomyoma. He was also placed on Everolimus but was lost to follow up. Conclusion: Rhabdomyomas are rare tumours of the heart which respond well to chemotherapy.

Rice and wheat provide nearly 40% of human calorie and protein requirements. They share a common ancestor and belong to the Poaceae (grass) family. Characterizing their genetic homology is crucial for developing new cultivars with enhanced traits. Several wheat genes and gene families have been characterized based on their rice orthologs. Rice–wheat orthology can identify genetic regions that regulate similar traits in both crops. Rice–wheat comparative genomics can identify candidate wheat genes in a genomic region identified by association or QTL mapping, deduce their putative functions and biochemical pathways, and develop molecular markers for marker-assisted breeding. A knowledge of gene homology facilitates the transfer between crops of genes or genomic regions associated with desirable traits by genetic engineering, gene editing, or wide crossing.

T cells recognize tumor-derived mutated peptides presented on MHC by tumors. The recognition of these neo-epitopes leads to rejection of tumors, an event that is critical for successful cancer immunosurveillance. Determination of tumor-rejecting neo-epitopes in human tumors has proved difficult, though recently developed systems approaches are becoming increasingly useful at evaluating their immunogenicity. We have used the differential aggretope index to determine the neo-epitope burden of sarcomas and observed a conspicuously titrated antigenic landscape, ranging from the highly antigenic osteosarcomas to the low antigenic leiomyosarcomas and liposarcomas. We showed that the antigenic landscape of the tumors inversely reflected the historical T cell responses in the tumor-bearing patients. We predicted that highly antigenic tumors with poor antitumor T cell responses, such as osteosarcomas, would be responsive to T cell–based immunotherapy regimens and demonstrated this in a murine osteosarcoma model. Our study presents a potentially novel pipeline for determining antigenicity of human tumors, provides an accurate predictor of potential neo-epitopes, and will be an important indicator of which cancers to target with T cell–enhancing immunotherapy.

Abstract Measuring the adenoma detection rate (ADR) is critical to providing quality care, however it is also challenging. We aimed to develop a tool using pre-existing electronic health record (EHR) functions to accurately and easily measure total ADR and to provide real-time feedback for endoscopists. We utilized the Epic EHR. With the help of an Epic analyst, using existing tools, we developed a method by which endoscopy staff could mark whether an adenoma was detected for a given colonoscopy. Using these responses and all colonoscopies performed by the endoscopist recorded in the EHR, ADR was calculated in a report and displayed to endoscopists within the EHR. One endoscopist piloted the tool, and results of the tool were validated against a manual chart review. Over the pilot period the endoscopist performed 145 colonoscopies, of which 78 had adenomas. The tool correctly identified 76/78 colonoscopies with an adenoma and 67/67 of colonoscopies with no adenomas (97.4% sensitivity, 100% specificity, 98% accuracy). There was no difference in ADR as determined by the tool compared to manual review (53.1% vs. 53.8%, p = 0.912). We successfully developed and pilot tested a tool to measure ADR using existing EHR functionality.

Purpose Authors of scholarly writing are underrepresented in discussions about improving the academic publishing system. The objective of this study was to assess the possibility of harmonizing manuscript preparation and the submission guidelines of journals by assessing the opinions of dental faculty members who worked in the state of Andhra Pradesh, India. Methods A cross-sectional survey of 1,286 participants from 16 dental schools in Andhra Pradesh was conducted from March 15, 2021 to April 15, 2021. The questionnaire addressed the participants’ demographic details and perspectives on the guidelines for manuscript preparation and the need to harmonize those guidelines with the publication process. The online questionnaire was generated using Google Forms and consisted of six dichotomous, one multiple-choice, and seven Likert scale items. Descriptive statistics were obtained. Results Of the 894 (69.5%) dental faculty members who responded, 448 (50.1%) were not aware of the International Committee of Medical Journal Editors’ guidelines for manuscript preparation and submission. During the manuscript revision process, 792 (95.5%) had experienced difficulty with the variation in author guidelines for each journal, especially the guidelines for formatting tables, reference style, and citation of references in-text. The idea of a standardized template for manuscript preparation and submission was supported by 800 respondents (86.7%). Conclusion Dental faculty members in India experienced difficulty in manuscript preparation for medical journals due to the differing editorial policies among journals. Therefore, a standardized template providing uniformity in style and format is needed.

Fingerprint patterns (or epidermal ridges) are by far one of the most reliable techniques for individual identification. Fingerprint patterns get deposited on all kinds of solid surfaces due to human transudation or exudation process. Bodily fluids through sweat glands contain moisture, natural oils and proteins. Since latent fingerprint patterns are not readily recognizable they are collected from a crime scene and are further processed physically or chemically. Fingerprints obtained using conventional black and white powders face severe drawbacks including low sensitivity, high background interference from the substrates, involvement of toxic materials, and poor stability. To overcome the above-listed issues, especially for coloured and transparent substrates, luminescent materials have emerged as potential agents for rapid visualization of high-contrast latent fingerprints. This review covers the recent advancements in luminescent nanomaterials of both kinds (up and down conversion) and persistent nanophosphors for developing latent fingerprints. Special emphasis has been given to an unusual class of luminescent materials known as persistent nanophosphors, which do not require a constant excitation, thereby completely eradicating background noise. The review also covers different approaches to gathering fingerprints such as powder dusting, cyanoacrylate fuming, ninhydrin fuming and vacuum metal deposition. [ABSTRACT FROM AUTHOR]

Abstract Background 16–25% of colorectal cancers (CRCs) diagnosed under age 50 are associated with hereditary cancer syndromes. Advanced adenomas are considered precursors to CRC. Although polyp removal prevents cancer, polypectomy does not change underlying genetic risk. Patients with isolated advanced polyps do not currently qualify for genetic testing unless they have a personal or family history of cancer. Aim Describe the prevalence of hereditary cancer syndromes among patients with advanced colorectal polyps. Methods We performed a single center retrospective review from 2015 to 2019 of patients who underwent germline genetic testing with indication for testing listed as colorectal polyp. We excluded patients with a personal history of CRC and those with ≥10 cumulative polyps. We collected patient demographics, polyp characteristics, family history data and genetic testing results from the medical record. Discrete variables were reported as frequency and percentages and continuous variables reported as mean with range. Results A total of 42 patients underwent genetic testing due to a personal history of advanced adenoma. 17% of patients met current genetic testing criteria. All patients underwent multi-gene panel testing. Two patients (4.8%) had a germline pathogenic mutation (one in MLH1 and one in CHEK2). The patient with an MLH1 mutation met current criteria for genetic testing (PREMM5 score 5.8), however the patient with the CHEK2 mutation did not. Both mutation carriers had a personal history of synchronous or metachronous advanced adenomas. 38% had a variant of uncertain significance. Conclusions 5% of patients with advanced adenomas in our retrospective series had a pathogenic germline mutation in a cancer predisposition gene. Though the patient with a pathogenic mutation in MLH1 met current clinical criteria for genetic testing, this was not recognized prior to referral; he was referred based on a personal history of advanced adenoma. Advanced polyps may be a red flag to identify patients who are at risk for hereditary cancer syndromes.