Clinical and genetic analysis of two patients with congenital neutropenia caused by ELANE gene mutation / 中华医学遗传学杂志

OBJECTIVE@#To explore the clinical characteristics of congenital neutropenia caused by ELANE gene mutations.@*METHODS@#Clinical manifestations, absolute blood neutrophil count, high-throughput exome sequencing for mutation screening, suspected locus Sanger sequencing verification, processes of diagnosis and treatment of two patients with congenital neutropenia caused by ELANE gene mutation were retrospectively analyzed.@*RESULTS@#High-throughput sequencing has found that proband 1 has carried a heterozygous c.170C>T (p.Ala57Val) missense mutation in exon 2 of the ELANE gene, which was known to be pathological, and a heterozygous c.251T>G (p.Leu84Arg) mutation in exon 3 of proband 2, which was unreported previously. Sanger sequencing confirmed that neither mutation was inherited from their parents.@*CONCLUSION@#ELANE mutation is an important cause for congenital neutropenia. Detection of new pathogenic variants has enriched the mutation spectrum of the ELANE gene.

Preparation and characterization of paclitaxel-loaded poly lactic acid-co-glycolic acid coating tracheal stent / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>In-stent restenosis caused by airway granulation poses a challenge due to the high incidence of recurrence after treatment. Weekly applications of anti-proliferative drugs have potential value in delaying the recurrence of airway obstruction. However, it is not practical to subject patients to repeated bronchoscopy and topical drug applications. We fabricated novel pacilitaxel-eluting tracheal stents with sustained and slow pacilitaxel release, which could inhibit the formation of granulation tissue. And we assessed the quality and drug release behaviors of drug-eluting stents (DESs) in vitro.</p><p><b>METHODS</b>Stents were dipped vertically into a coating solution prepared by dissolving 0.5 g (2% w/v) of poly lactic acid-coglycolic acid (PLGA) and 0.025 g (0.1% w/v) of pacilitaxel in 25 ml of dichloromethane. DES morphology was examined by scanning electron microscopy (SEM). Pacilitaxel release kinetics from these DESs was investigated in vitro by shaking in PBS buffer followed by high performance liquid chromatography (HPLC).</p><p><b>RESULTS</b>Using an orthogonal experimental design, we fabricated numerous pacilitaxel/PLGA eluting tracheal stents to assess optimum coating proportions. The optimum coating proportion was 0.1% (w/v) pacilitaxel and 2% (w/v) PLGA, which resulted in total pacilitaxel loading of (16.380 6 ± 0.002 1) mg/stent. By SEM the coating was very smooth and uniform. Pacilitaxel released from DES was at (0.376 3 ± 0.003 8) mg/d, which is a therapeutic level. There was a prolonged, sustained release of pacilitaxel of >40 days.</p><p><b>CONCLUSIONS</b>Paclitaxel-loaded PLGA coating tracheal stents were successfully developed and evaluated. Quality assessments demonstrated favorable surface morphology as well as sustained and effective drug release behavior, which provides an experimental reference for clinical practitioners.</p>

Diagnostic value of multiple tumor marker protein biochip detective system for patients with lung cancer / 中国医师进修杂志

Objective To evaluate diagnostic values of multi-tumor markers protein biochip detective system for lung cancer. Methods Patients with lung cancer group(78 cases),benign pulmonary diseases group (118 cases) and control group (68 cases) were enrolled.Twelve tumor markers in serum (AFP,CEA,NSE,CA125,CA153,CA242,CA199,PSA,f-PSA,FER,?-HCG and HGH) were measured by the multi-tumor markers protein biochip detective system. Result The serum levels of CEA,CA125,Fer and CA242 in the lung cancer group were much higher than those of the other two groups.There were no significant differences of serum levels and positive rates of other tumor markers among three groups.The sensitivity of CEA,CA125,Fer and CA242 was 41.0%,35.9%,26.9% and 17.9% respectively,the specificity 89.8%,86.0%,86.6% and 95.7% respectively。 Conclusions The multi-tumor markers protein biochip detective system has diagnostic values in lung cancer.When more than three markers are positive simultaneously,the sensitivity was 24.4%,and the specificity was 96.8%.The result could help to detect the character of tumor.

An preliminary study of the relationship between chronic prostatitis and IgA nephropathy / 解放军医学杂志

Objective To study the role of chronic prostatitis(CP)in the pathogenesis and development of IgA nephropathy(IgAN). Methods The incidence rate of CP was compared between the patients with IgAN and the patients with non-IgA mesangial proliferative glomerulonephritis. Furthermore, the clinical and pathological features were compared between the IgAN patients without CP and those with CP. The therapeutic effect of anti-inflammatory treatment in IgAN patients with CP was evaluated. Results Incidence of CP in IgAN patients was 44.7% and that in non-IgA mesangial proliferative glomerulonephritis patients was 21.6%. There was significant difference in the incidence of chronic prostatitis between the two groups. The incidence of glomerular sclerosis and the deposition of immune complexes in vascular wall in IgAN patients with CP were higher than that in patients without CP. The treatment of CP may be beneficial in ameliorating IgAN in some patients. Conclusion Chronic prostatitis is one of the probable pathogenetic factors in IgAN.