Genotypic and phenotypic characterization of Chinese patients with osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a rare hereditary skeletal dysplasia, characterized by recurrent fractures and bone deformity. This study presents a clinical characterization and mutation analysis of 668 patients, aiming to establish the mutation spectrum and to elucidate genotype-phenotype correlations in Chinese OI patients. We identified 274 sequence variants (230 in type I collagen encoding genes and 44 in noncollagen genes), including 102 novel variants, in 340 probands with a detection rate of 90%. Compared with 47 loss-of-function variants detected in COL1A1, neither nonsense nor frameshift variants were found in COL1A2 (p < 0.0001). The major cause of autosomal recessive OI was biallelic variants in WNT1 (56%, 20/36). It is noteworthy that three genomic rearrangements, including one gross deletion and one gross duplication in COL1A1 as well as one gross deletion in FKBP10, were detected in this study. Of ten individuals with glycine substitutions that lie towards the N-terminal end of the triple-helical region of the α1(I) chain, none exhibited hearing loss, suggesting a potential genotype-phenotype correlation. The findings in this study expanded the mutation spectrum and identified novel correlations between genotype and phenotype in Chinese OI patients.

Normal Reference Intervals of Neutrophil-To-Lymphocyte Ratio, Platelet-To-Lymphocyte Ratio, Lymphocyte-To-Monocyte Ratio, and Systemic Immune Inflammation Index in Healthy Adults: a Large Multi-Center Study from Western China.

BACKGROUND: Numerous studies have shown that the hematological components of the systemic inflammatory response, including the neutrophil-to-lymphocyte ratio (NLR), the platelet-to-lymphocyte ratio (PLR), the lymphocyte-to-monocyte ratio (LMR), and the systemic immune inflammation index (SII) are efficient prognostic indicators in patients with cancers. Most of the studies did not investigate the reference intervals (RIs) of these parameters in healthy controls. METHODS: A retrospective cohort study was performed on healthy ethnic Han population aged between 18 and 79 years of age by retrieving the data from a healthy routine examination center database and laboratory infor-mation system of four participating centers in western China. By following the Clinical and Laboratory Standards Institute (CLSI), RIs of each parameter was established and validated. RESULTS: The analysis included 5,969 healthy subjects. We found that the individual's gender can significantly influence PLR, LMR, and SII (all p < 0.05), but not NLR (p > 0.05). Surprisingly, we also found that with an increase in age, the PLR, LMR, and SII tend to decrease, while NLR remained stable. PLR, LMR, and SII values were significantly higher in the young adults (18 - 64 years) than in old adults (65 - 79 years) (p < 0.001). The RIs of NLR, PLR (adults), PLR (old adults), LMR and SII were 0.88 - 4.0, 49 - 198, 42 - 187, 2.63 - 9.9, 142 x 109/L - 804 x 109/L, respectively. CONCLUSIONS: Our study addresses possible variations and establishes consensus for the NLR, PLR, LMR, and SII RIs for healthy Han Chinese adults in western China. Further, established RIs can standardize clinical applications and promote the use of these indicators into the routine complete blood count report.

Shape-controllable synthesis of MnO2 nanostructures from manganese-contained wastewater for phenol degradation by activating peroxymonosulphate: performance and mechanism.

Nanostructured manganese oxide materials were prepared from manganese-contained wastewater (MW) using a facile hydrothermal method and adopted as a catalyst to degrade phenol via activation of peroxymonosulphate (PMS). In the WM environment, δ-MnO2 (flower-like Mn-2 with nanosheets) was transformed to α-MnO2 (needle-like Mn-4 with nanowires). Catalytic evaluation experiments demonstrated that the needle-like MnO2 was highly efficient for phenol removal, with a degradation efficiency of 100% within 15 min at the optimal conditions of catalyst dosage 0.2 g/L, PMS dosage 1.5 g/L, initial phenol concentration 0.025 g/L, initial pH 3 and temperature 25°C. Moreover, the needle-like MnO2 catalyst could be recycled and the regenerated material after calcination remained excellent catalytic activity. On the surface of catalysts, PMS was activated by MnIV to generate [Formula: see text] which was the major reactive species attacking phenol. Overall, the needle-like MnO2 prepared from MW was an efficient catalyst with low cost for organic wastewater treatment, realizing both Mn resource recycle and organic wastewater treatment.