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Accuracy, Reproducibility, and Responsiveness to Treatment of Home Spirometry in Cystic Fibrosis: Multicenter, Retrospective, Observational Study

Accuracy, Reproducibility, and Responsiveness to Treatment of Home Spirometry in Cystic Fibrosis: Multicenter, Retrospective, Observational Study

Cystic fibrosis (CF) is an autosomal recessive hereditary condition caused by a range of genetic defects in the gene coding for the cystic fibrosis transmembrane conductance regulator (CFTR) protein [1]. The defect leads to increased sputum viscosity which causes chronic pulmonary inflammation and predisposes to recurrent pulmonary infections. Early detection and treatment of pulmonary deterioration is imperative for people with CF to prevent morbidity and mortality [1,2].

Martinus C Oppelaar, Hanneke AC van Helvoort, Michiel AGE Bannier, Monique HE Reijers, Hester van der Vaart, Renske van der Meer, Josje Altenburg, Lennart Conemans, Bart L Rottier, Marianne Nuijsink, Lara S van den Wijngaart, Peter JFM Merkus, Jolt Roukema

J Med Internet Res 2024;26:e60892

Risk of Subsequent Primary Cancers Among Adult-Onset 5-Year Cancer Survivors in South Korea: Retrospective Cohort Study

Risk of Subsequent Primary Cancers Among Adult-Onset 5-Year Cancer Survivors in South Korea: Retrospective Cohort Study

The occurrence of cancers is influenced by environmental and hereditary factors, as well as random mutations [9]. Hereditary factors are linked to young-onset and multiple cancers [10-12]. Consequently, young cancer survivors may be at a higher risk of developing SPCs than their older counterparts and may exhibit unique combinations of FPCs and SPCs that are influenced by genetic susceptibility.

Yoon Young Choi, Myeongjee Lee, Eun Hwa Kim, Jae Eun Lee, Inkyung Jung, Jae-Ho Cheong

JMIR Public Health Surveill 2024;10:e48380

Peer Review of “A Gene Therapy for Hereditary Nonpolyposis Colorectal Cancer using CRISPR-Cas9 Nickase”

Peer Review of “A Gene Therapy for Hereditary Nonpolyposis Colorectal Cancer using CRISPR-Cas9 Nickase”

This is a peer-review report submitted for the preprint “A Gene Therapy for Hereditary Nonpolyposis Colorectal Cancer using CRISPR-Cas9 Nickase.” This paper [1] investigates a gene therapy for hereditary nonpolyposis colorectal cancer using clustered regularly interspaced short palindromic repeats (CRISPR)–Cas9 nickase.

Chunbao Sun

JMIRx Bio 2023;1:e54743

Evaluation of the Rosa Chatbot Providing Genetic Information to Patients at Risk of Hereditary Breast and Ovarian Cancer: Qualitative Interview Study

Evaluation of the Rosa Chatbot Providing Genetic Information to Patients at Risk of Hereditary Breast and Ovarian Cancer: Qualitative Interview Study

The Rosa chatbot was created to perform humanlike digital conversations about hereditary breast and ovarian cancer, and its development and testing process has been described previously [4]. Rosa is built on a commercially available platform supporting Norwegian language, using machine learning and natural language processing. It has a database of predefined answers about hereditary breast and ovarian cancer written by genetic counselors and geneticists from all health regions in Norway.

Elen Siglen, Hildegunn Høberg Vetti, Mirjam Augestad, Vidar M Steen, Åshild Lunde, Cathrine Bjorvatn

J Med Internet Res 2023;25:e46571

Predicting Openness of Communication in Families With Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis

Predicting Openness of Communication in Families With Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis

In this study, we examined the role of sentiment in predicting openness of communication about genetic cancer risk associated with hereditary breast and ovarian cancer (HBOC) syndrome. HBOC is a hereditary cancer syndrome that affects both men and women and accounts for a significant number of different cancers, such as breast, ovarian, pancreatic, and prostate [27].

Vasiliki Baroutsou, Rodrigo Cerqueira Gonzalez Pena, Reka Schweighoffer, Maria Caiata-Zufferey, Sue Kim, Sharlene Hesse-Biber, Florina M Ciorba, Gerhard Lauer, Maria Katapodi, CASCADE Consortium

JMIR Form Res 2023;7:e38399