Publications by authors named "M H Wener"
Article Synopsis
- - A study compared the outcomes of autologous hematopoietic stem cell transplantation (AHSCT) using unmodified peripheral blood stem cells (PBSC) with maintenance therapy (mycophenolate mofetil) versus a previously studied method that involved CD34+ selected PBSC in patients with diffuse systemic sclerosis (SSc).
- - In this trial involving 20 high-risk SSc patients, the 5-year overall survival (OS) was estimated at 85%, and event-free survival (EFS) was 75%, indicating promising results with this new approach.
- - The research highlighted a potential risk factor for poor outcomes in patients undergoing AHSCT: having a low estimated glomerular filtration rate (
Article Synopsis
- - A rare genetic condition involving mitochondrial complex III deficiency and lactic acidosis, characterized by scalp alopecia, was identified in two unrelated cases and discussed further with a participant from the Undiagnosed Diseases Network (UDN).
- - The participant had two autosomal recessive disorders discovered through genome sequencing: mitochondrial complex III deficiency and cataracts, with specifics on previously documented pathogenic variants for each condition.
- - A combination of enzyme assays and cellular proteomics showed clear dysfunction in complex III and low levels of a crucial protein, validating the genetic mutations' pathogenic effects and broadening understanding of these rare disorders.
Objectives: To evaluate the real-world performance and reference intervals of the Binding Site Freelite serum free light chain (SFLC) assay (Thermo Fisher Scientific), a global standard for diagnosis, prognostication, and response assessment for monoclonal gammopathies.
Methods: An informatics-based approach was used to retrospectively evaluate concordance between SFLC and the orthogonal Sebia HYDRASYS immunofixation assay results in a large clinical data set consecutively reported between 2010 and 2020.
Results: Among patients with monoclonal-negative results by both SFLC and Sebia HYDRASYS immunofixation assays, 25% (1226/5057) had κ/λ ratios (KLRs) outside the manufacturer-defined and International Myeloma Working Group-cited normal reference interval of 0.
Objectives: Transcript sequencing of patient-derived samples has been shown to improve the diagnostic yield for solving cases of suspected Mendelian conditions, yet the added benefit of full-length long-read transcript sequencing is largely unexplored.
Methods: We applied short-read and full-length transcript sequencing and mitochondrial functional studies to a patient-derived fibroblast cell line from an individual with neuropathy that previously lacked a molecular diagnosis.
Results: We identified an intronic homozygous c.