Publications by authors named "H J Kremer"
Article Synopsis
- * Traditional pain management methods, including NSAIDs, opioids, and other medications, have shown limited effectiveness in alleviating lymphatic pain.
- * The review aims to enhance understanding of lymphatic pain through research-based insights, emphasizing the importance of precise pain assessment and innovative behavioral interventions to improve treatment outcomes.
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved cases.
Hedwig M Velde Maryam Vaseghi-Shanjani Jeroen J Smits Gayatri Ramakrishnan Jaap Oostrik Hannie Kremer
Hum Genet
November 2024
Although more than 140 genes have been associated with non-syndromic hereditary hearing loss (HL), at least half of the cases remain unexplained in medical genetic testing. One reason is that pathogenic variants are located in 'novel' deafness genes. A variant prioritization approach was used to identify novel (candidate) genes for HL.
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- Clinical exome sequencing (ES) aids in diagnosing rare genetic disorders by analyzing protein-coding sequences, but 40-60% of patients still lack a conclusive diagnosis, with some revealing monoallelic variants in recessive disorders.* -
- The study explored short-read genome sequencing (GS) on 174 individuals with identified monoallelic variants, successfully uncovering additional pathogenic variants in five patients and rare non-coding variants in 24 others, with three variants confirmed to affect splicing.* -
- Overall, GS increased the diagnostic yield, identifying a likely second pathogenic variant in 4.6% of the cohort and providing a possible diagnosis for 12.1%, suggesting it could be a valuable first-tier
Article Synopsis
- The study investigates the daily-living risks that can lead to breast cancer-related lymphedema (BCLE), using data from 567 patients at a cancer center in the U.S.
- Significant risks include infection, cuts/scratches, sunburn, steam burns, and insect bites, with certain skin trauma factors increasing the likelihood of developing BCLE substantially.
- Findings suggest that while avoiding all risks is difficult, implementing strategies to minimize skin trauma and infection can help reduce the chances of BCLE.