Value of serum fibroblast growth factor 23 in diagnosis of hypophosphatemic rickets in children / 中国当代儿科杂志

OBJECTIVES@#To study the value of serum fibroblast growth factor 23 (FGF23) in the diagnosis of hypophosphatemic rickets in children.@*METHODS@#A total of 28 children who were diagnosed with hypophosphatemic rickets in Children's Hospital of Nanjing Medical University from January 2016 to June 2021 were included as the rickets group. Forty healthy children, matched for sex and age, who attended the Department of Child Healthcare of the hospital were included as the healthy control group. The serum level of FGF23 was compared between the two groups, and the correlations of the serum FGF23 level with clinical characteristics and laboratory test results were analyzed. The value of serum FGF23 in the diagnosis of hypophosphatemic rickets was assessed.@*RESULTS@#The rickets group had a significantly higher serum level of FGF23 than the healthy control group (P<0.05). In the rickets group, the serum FGF23 level was positively correlated with the serum alkaline phosphatase level (rs=0.38, P<0.05) and was negatively correlated with maximum renal tubular phosphorus uptake/glomerular filtration rate (rs=-0.64, P<0.05), while it was not correlated with age, height Z-score, sex, and parathyroid hormone (P>0.05). Serum FGF23 had a sensitivity of 0.821, a specificity of 0.925, an optimal cut-off value of 55.77 pg/mL, and an area under the curve of 0.874 in the diagnosis of hypophosphatemic rickets (P<0.05).@*CONCLUSIONS@#Serum FGF23 is of valuable in the diagnosis of hypophosphatemic rickets in children, which providing a theoretical basis for early diagnosis of this disease in clinical practice.

Deletions and rearrangements of PAX5 gene in B-lineage acute lymphoblastic leukemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To determine the frequency paired-box domain 5 (PAX5) gene alterations in B-lineage acute lymphoblastic leukemia (B-ALL) harboring 9p abnormalities and its implication for clinical prognosis.</p><p><b>METHODS</b>Bacterial artificial chromosomes RP11-344B23 and RP11-652D9 encompassing the PAX5 gene were selected. DNA was extracted with conventional method and labeled with fluorescein by nicking transition. Fluorescence in situ hybridization (FISH) was used to determine the rearrangement or deletion of the PAX5 gene in B-ALL harboring chromosome 9p abnormalities. Clinical and laboratory features of patients were analyzed.</p><p><b>RESULTS</b>Fifty cases were analyzed with FISH. Complete deletion was observed in 23 patients (46%), partial deletion was observed in 2 patients (4%), and rearrangement was detected only in 1 case. The total frequency of abnormalities was 52% (26/50). No significant difference was found in clinical features of patients with or without PAX5 rearrangement or deletion.</p><p><b>CONCLUSION</b>The frequency of PAX5 gene alterations in B-ALL harboring 9p abnormalities was 52%. However, no significant difference was found between patients with and without PAX5 alterations.</p>

Clinical significance of serum vascular endothelial growth factor and interleukin-17 in patients with multiple myeloma / 中国实验血液学杂志

The aim of this study was to investigate the clinical significance of vascular endothelial growth factor (VEGF) and interleukin-17 (IL-17) levels in patients with multiple myeloma (MM). 40 newly diagnosed MM patients were enrolled, including 9 in stage I, 18 in stage II, 13 in stage III. 25 patients were treated with VAD regimen, and 15 patients with the bortezomib and dexamethasone (BD) regimen. 20 healthy individuals as controls were enrolled in this study. The serum VEGF and IL-17 levels were determined by ELISA. The results indicated that the serum VEGF and IL-17 levels in the patients with MM were significantly higher than those in healthy controls (P < 0.01). VEGF and IL-17 levels in stage III was significantly higher than that in stage I and II (P < 0.05). There was a positive correlation between IL-17 and serum calcium β2-microglobulin or C-reactive protein (P < 0.01), and there was also a positive correlation between VEGF and serum creatinine serum Bene-Jones protein λ or urinary Bene-Jones protein λ (P < 0.01). Serum VEGF and IL-17 levels significantly decreased in MM patients after treatment, and the serum levels of VEGF and IL-17 was much lower in MM patients treated with VAD regimen than those in patients treated with BD regimen. It is concluded that the detection of serum VEGF and IL-17 levels is helpful to evaluation of the clinical stages and the severity of MM.