Prenatal Presentation of RMRP‐Related Skeletal Dysplasia: Clinical and Genomic Expansion
ABSTRACT The RNA subunit of the mitochondrial RNA processing endoribonuclease complex is encoded by RMRP. Biallelic variants in RMRP are known for anauxetic dysplasia 1 (AD), cartilage‐hair hypoplasia (CHH), and metaphyseal dysplasia without hypotrichosis.
Radhakrishnan Periyasamy +21 more
wiley +1 more source
Prevalence of hepatitis B virus and associated factors among blood donors in Hossana blood bank catchment area, Southern Ethiopia. [PDF]
Jaldo MM, Joffe MW, Zemedkun ES.
europepmc +1 more source
This study develops a reformulated tribromoethanol (TBE) anesthetic using 1,2‐propanediol as a solvent to overcome solvent‐related toxicity. The novel formulation demonstrates, cardiovascular stability, and survival in prolonged protocols. It provides potent, dose‐dependent anesthesia without strain or sex differences.
Xia Li +3 more
wiley +1 more source
Comparison between chimeric Trypanosoma cruzi antigens (ABBOTT PRISM Chagas assay) and local antigenic extracts in blood bank screening for Chagas disease in an endemic area for the Triatoma dimidiata vector. [PDF]
Pérez FL +3 more
europepmc +1 more source
Genetic Resilience and Resistance in Alzheimer's Disease Diagnosis and Pathology
Objective Some individuals avoid Alzheimer's disease (AD) pathology as they age, or retain cognition despite substantial pathology, suggesting mechanisms of resistance or resilience to neurodegeneration. Educational attainment (EA) is associated with reduced risk of cognitive decline, although the underlying mechanisms remain unclear.
Ganna Leonenko +8 more
wiley +1 more source
Performance evaluation of hematology analyzer XN-10 (Blood Bank mode) and its comparison with flow-cytometer for quality control (QC) of leukodepleted blood components: Pilot Study. [PDF]
Tiwari AK +6 more
europepmc +1 more source
Abstract This study investigated the physiological and morphological adaptations of the liver of the carnivorous fish Pygocentrus nattereri (piranha) in response to seasonal variations (dry and rainy seasons) in the Brazilian Pantanal. The objective was to describe how the liver, a central organ in metabolic regulation, responds to environmental ...
Maria Eduarda Corona Garcia +9 more
wiley +1 more source
Serologic screening for viral infections among blood donors: a study in a blood bank in southern Brazil. [PDF]
Belanda GS +7 more
europepmc +1 more source

