INTRODUCTION: Colorectal cancer (CRC) is one of the leading causes of cancer death for both men and women in the United States. Several factors can increase one’s risk of CRC, including a personal or family history of CRC, a diagnosis or family history of a hereditary colon cancer syndrome, or a diagnosis of chronic inflammatory bowel disease. The purpose of this project was to create a colorectal cancer registry (Co-Care) for individuals with a personal or family history of CRC, and those with disorders of the colon or rectum that are associated with an increased risk for developing CRC. Methods: To be eligible for the registry, patients either had a personal or family history of CRC, a diagnosis or family history of Lynch syndrome, familial adenomatous polyposis, or a diagnosis of Crohn’s colitis or ulcerative colitis with dysplasia. Participants were recruited after seeing their gastroenterologist or genetic counselor, or after undergoing a full or partial colectomy at Mount Sinai Hospital in New York City. Eligible patients who agreed to participate were interviewed by a member of the research staff and asked a wide range of questions pertaining to CRC risk. RESULTS: A total of 224 patients were enrolled in the registry. Participants are mostly white, born in the United States, and married, with a bachelor’s or graduate degree, reporting an annual household income of $100,000 or more. The largest portion have a family history of CRC (27.2%), and almost half of participants are of Jewish descent (46.2%) and have undergone full or partial colectomy (48.2%). More than half of participants have neither received genetic counseling (54.5%) nor undergone genetic testing (59.7%). Only 3.6% report that they currently smoke cigarettes, and 41.1% consume alcohol at least once per week. Lastly, 18.3%, 10.3%, and 27.7% of participants report that they currently take aspirin, folic acid/folate pills or tablets, or calcium pills/tablets, respectively. CONCLUSIONS: This registry can improve our understanding of CRC and related diseases, and be used to design future interventions related to disease risk, prognosis, and prevention of CRC.
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Cureus
December 2024
Hematology, Avicenna Military Hospital, Marrakesh, MAR.
Congenital factor VII (FVII) deficiency is a rare genetic disorder with autosomal recessive inheritance, characterized by molecular and clinical heterogeneity. This article reports four Moroccan cases of FVII deficiency within the same family, two of which were associated with Gilbert's syndrome. The index case was a 15-year-old girl with a history of menorrhagia and jaundice.
View Article and Find Full Text PDFFront Plant Sci
January 2025
College of Life Sciences, University of Chinese Academy of Sciences, Beijing, China.
Introduction: , a genus within the Zingiberales order, is renowned for its diverse morphology, suggesting a rich genetic reservoir. However, genetic research on plants within the family has primarily focused on taxonomy and phylogenetics, with limited exploration into other genetic aspects, particularly the chloroplast genome. Given the significance of chloroplast genomes in evolutionary studies, a deeper understanding of their structure and diversity within Heliconia is essential.
View Article and Find Full Text PDFOphthalmol Sci
November 2024
Viterbi Family Department of Ophthalmology, Shiley Eye Institute, University of California, San Diego, La Jolla, California.
Objective: To quantitatively assess the retinal vascular tortuosity of patients with sickle cell disease (SCD) and retinopathy (SCR) using an automated deep learning (DL)-based pipeline.
Design: Cross-sectional study.
Subjects: Patients diagnosed with SCD and screened for SCR at an academic eye center between January 2015 and November 2022 were identified using electronic health records.
Backgrounds: Breech presentation, family history, and physical examination are the most recognized risk factors for DDH, which form the basis of selective screening. However, this approach can lead to late diagnosis, invasive treatments, and complications. This study analyzes the effectiveness of selective screening and identifies additional factors related to DDH.
View Article and Find Full Text PDFJ Assist Reprod Genet
January 2025
Assisted Reproduction Center, Northwest Women's and Children's Hospital, Xi'an, China.
Purpose: To assess the efficacy of clinical exome sequencing (CES) in individuals involved in assisted reproductive technology (ART) or sperm donor programs, with a specific focus on its impact on clinical decision-making.
Methods: A total of 3991 individuals without a family history of genetic disorders underwent CES targeting 5595 genes at a reproductive center between December 2022 and April 2024. The cohort comprised 217 sperm donors, 232 female recipients, and 1771 couples (3542 patients) undergoing ART with their own gametes.
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