Objective To investigate the prevalence of anemia in patients with rheumatoid arthritis (RA) and the relationship between anemia and disease activity of RA. Methods Retrospectively analyze the data of 239 RA patients. Results (1)Estimates of the prevalence of the anemia was 51.4% ;the level of anemia was mild and moderate,and none was severe. (2)There were statistic differences between the patients with anemia and without anemia in disease duration,morning stiff ness,ESR,CRP and degree of X-ray change. (3)There were statistic differences between the patients with anemia and without anemia in leukocyte counts and platelet counts. (4)The level of hemoglobin (Hb) was significantly increased after anti-rheumatoid treatment. Conclusion (1)Anemia is a common sign in individuals with rheumatoid arthritis. The level of anemia is mild and moderate. (2)There are important associations between anemia and disease activity of RA. (3)The level of hemoglobin is increased after anti-rheumatoid treatment.

OBJECTIVE: To identify genetic variants among patients with methylmalonic acidemia and provide genetic evidence for prenatal diagnosis. METHODS: Thirty-one probands and their parents were subjected to next generation sequencing (NGS). Suspected variants were verified by Sanger sequencing. RESULTS: 25 probands or their parents were found to harbor previously known pathogenic or likely pathogenic variants, and three probands were found to carry heterozygous MMACHC exonic deletion. The overall diagnostic yield was 90.32%. CONCLUSION NGS can improve the detection rate for methylmalonic acidemia for its accuracy and efficiency, yet the detection of exonic deletion is required to further improve the diagnostic yield. The identification of specific variants provided evidence for prenatal diagnosis.
Amino Acid Metabolism, Inborn Errors/genetics* ; Female ; Heterozygote ; High-Throughput Nucleotide Sequencing ; Humans ; Mutation ; Oxidoreductases ; Pregnancy ; Prenatal Diagnosis

This article reported the genetic etiology of two pedigrees with Alstrom syndrome and the results of prenatal genetic diagnosis in the second pregnancies of the two pedigrees. The probands in the two pedigrees both had different degrees of visual abnormalities. The mothers of the two probands were pregnant again and received prenatal diagnosis in the First Affiliated Hospital of Zhengzhou University. Whole-exome sequencing and Sanger sequencing confirmed that the proband of pedigree 1 carried compound heterozygous variants of c.6103C>T(p.Gln2035*) and c.6430C>T(p.Arg2144*) in ALMS1 gene, and the parents were carriers. While the proband of pedigree 2 was found to carry compound heterozygous variants of c.9148_9149delCT(p.Cys3051Serfs*9) and c.12028delC(p.Leu4010Typfs*19) in ALMS1 gene and the parents were also carriers. Among these variants, c.6103C>T(p.Gln2035*), c.9148_9149delCT(p.Cys3051Serfs*9) and c.12028delC(p.Leu4010Typfs*19) were all de novo ones. Prenatal genetic detection confirmed the fetus of pedigree 1 carried c.6430C>T(p.Arg2144*) variant inherited from the father and the pregnancy was continued after genetic counselling, while the fetus of pedigree 2 was found to carry both of the same variants as the proband and the pregnancy was terminated.

To expand the single-dose duration over which noninvasive clinical and preclinical cancer imaging can be conducted with high sensitivity, and well-defined spatial and temporal resolutions, a facile strategy to prepare ultrasmall nanoparticulate X-ray contrast media (nano-XRCM) as dual-modality imaging agents for positron emission tomography (PET) and computed tomography (CT) has been established. Synthesized from controlled copolymerization of triiodobenzoyl ethyl acrylate and oligo(ethylene oxide) acrylate monomers, the amphiphilic statistical iodocopolymers (ICPs) could directly dissolve in water to afford thermodynamically stable solutions with high aqueous iodine concentrations (>140 mg iodine/mL water) and comparable viscosities to conventional small molecule XRCM. The formation of ultrasmall iodinated nanoparticles with hydrodynamic diameters of ca. 10 nm in water was confirmed by dynamic and static light scattering techniques. In a breast cancer mouse model, in vivo biodistribution studies revealed that the ⁶⁴Cu-chelator-functionalized iodinated nano-XRCM exhibited extended blood residency and higher tumor accumulation compared to typical small molecule imaging agents. PET/CT imaging of tumor over 3 days showed good correlation between PET and CT signals, while CT imaging allowed continuous observation of tumor retention even after 10 days post-injection, enabling longitudinal monitoring of tumor retention for imaging or potentially therapeutic effect after a single administration of nano-XRCM.