The hospital Israelita Albert Einstein standards for constitutional sequence variants classification: version 2023.

Background: Next-generation sequencing has had a significant impact on genetic disease diagnosis, but the interpretation of the vast amount of genomic data it generates can be challenging. To address this, the American College of Medical Genetics and Genomics and the Association for Molecular Pathology have established guidelines for standardized variant interpretation. In this manuscript, we present the updated Hospital Israelita Albert Einstein Standards for Constitutional Sequence Variants Classification, incorporating modifications from leading genetics societies and the ClinGen initiative.

Hilab System Device in an Oncological Hospital: A New Clinical Approach for Point of Care CBC Test, Supported by the Internet of Things and Machine Learning.

The complete blood count (CBC) is a highly requested test that is generally restricted to centralized laboratories, which are limited by high cost, being maintenance-demanding, and requiring costly equipment. The Hilab System (HS) is a small, handheld hematological platform that uses microscopy and chromatography techniques, combined with machine learning (ML) and artificial intelligence (AI), to perform a CBC test. This platform uses ML and AI techniques to add higher accuracy and reliability to the results besides allowing for faster reporting.

Hilab system, a new point-of-care hematology analyzer supported by the Internet of Things and Artificial Intelligence.

The complete blood count (CBC) is one of the most requested tests by physicians. CBC tests, most realized in conventional hematological analyzers, are restricted to centralized laboratories due to frequent maintenance, large devices, and expensive costs required. On the other hand, most handheld CBC devices commercially available show high prices and are not liable to calibration or control procedures, which results in poor quality compared to standard hematology instruments.

TreeAndLeaf: an R/Bioconductor package for graphs and trees with focus on the leaves.

Motivation: Dendrogram is a classical diagram for visualizing binary trees. Although efficient to represent hierarchical relations, it provides limited space for displaying information on the leaf elements, especially for large trees.

Results: Here, we present TreeAndLeaf, an R/Bioconductor package that implements a hybrid layout strategy to represent tree diagrams with focus on the leaves.

Adrenocortical Carcinoma Steroid Profiles: Pan-Cancer Analysis of TCGA Data Uncovers Immunotherapy Targets for Potential Improved Outcomes.

Despite progress in understanding the biology of adrenocortical carcinoma (ACC), treatment options have not dramatically changed in the last three decades, nor have we learned how to avoid some of its long-term side effects. Our goal was to improve the understanding of immune pathways that may include druggable targets to enhance immune responses of patients with ACC, focusing on immune evasion and the activation of immune cells against ACC. Our strategy was aimed at improving insight regarding gene expression without steroid interference.

Risk behaviors for eating disorder in adolescents and adults with type 1 diabetes.

Objective: To evaluate the frequency of risk behaviors for eating disorder (ED) in patients with type 1 diabetes (T1D) and their association with gender, nutritional status, variables related to T1D, and body satisfaction.

Method: 189 individuals with T1D (12-56 years old) answered the Bulimic Investigation Test (BITE), the Eating Attitude Test (EAT), the Binge Eating Scale (BES), Stunkard's Figure Rating Scale, and questions regarding control of T1D. Association between ED risk behaviors and the selected variables was assessed with the chi-square test and Student's t-test; factors that influenced the risk of ED were identified by means of logistic regression.

Increasing the physical markers of wheat chromosomes using SSRs as FISH probes.

In plants the marker sequences used to identify chromosomes are mainly repetitive DNA probes. Simple sequence repeats (SSRs) are major components of many plant genomes and could be good markers for chromosome identification. In a previous work, we reported the physical distribution of 4 oligonucleotides, (AG)12, (CAT)5, (AAC)5, and (AAG)5, on Triticum aestivum L.