Publications by authors named "B Z Alter"
Introduction: Diamond Blackfan anaemia (DBA) is a rare disorder characterized by failure of red blood cell production, congenital abnormalities and cancer predisposition, primarily caused by pathogenic germline variants in genes encoding ribosomal proteins.
Methods: We conducted a genotype-phenotype and outcome study of 121 patients with DBA spanning the 20-year history of the National Cancer Institute's Inherited Bone Marrow Failure Syndromes study. Patient phenotypes were compared by large versus small ribosomal protein genes, across genes with >5 cases (, , and ) and by type of pathogenic variants (hypomorphic versus null, large deletions versus others).
Article Synopsis
- Chronic low back pain (cLBP) often leads to avoidance or distraction strategies, but the Mind Your Pain (MyP) app shows promise as a mind-body intervention for relief.
- A study with 29 participants assessed the app's effectiveness over 8 weeks, finding significant reductions in pain using the Pain, Enjoyment of Life and General Activity Scale (PEG).
- Results indicated that participants who responded well to MyP displayed increased activation in specific brain areas related to pain, suggesting potential neural biomarkers for cLBP management through mind-body approaches.
Significance: Auriculotherapy is a technique based on stimulation applied to specific ear points. Its mechanism of active and clinical efficacy remain to be established. This study aims to assess the role that primary somatosensory cortex may play to validate auriculotherapy mechanisms.
View Article and Find Full Text PDFTelomere biology disorders (TBDs), caused by pathogenic germ line variants in telomere-related genes, present with multiorgan disease and a predisposition to cancer. Clonal hematopoiesis (CH) as a marker of cancer development and survival in TBDs is poorly understood. Here, we characterized the clonal landscape of a large cohort of 207 patients with TBD with a broad range of age and phenotype.
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- Fanconi anemia (FA), dyskeratosis congenita-related telomere biology disorders (DC/TBD), and Diamond-Blackfan anemia (DBA) are inherited conditions that significantly increase the risk of bone marrow failure and related cancers.
- The study found that males with FA and DC/TBD had significantly lower serum levels of anti-Müllerian hormone (AMH), a marker for fertility, compared to unaffected relatives and healthy males.
- These results suggest that there might be a defect in AMH production in postpubertal males with FA and DC/TBD, indicating potential fertility issues similar to those seen in females; further research is needed to confirm these findings.