The erroneous perception of a clinical sign: Cholestasis preceding sepsis mimicking hepatitis in an adolescent patient

Jaundice should be considered as a first clinical sign preceding severe invasive bacterial infection or sepsis in patients of all ages including childhood and adolescence. Early laboratory investigations and MR imaging studies for osteomyelitis or myositis are paramount to avoid progression to life‐threatening sepsis and significant morbidity and mortality.     

T Cell receptor γ variable gene locus polymorphism in patients with rheumatoid arthritis

Objective. We sought new susceptibility markers for rheumatoid arthritis (RA) among the T cell receptor γ (TCRγ) genes. Methods. We analyzed restriction fragment length polymorphisms (RFLP) of the first variable subgroup of TCRγ genes in a group of French control subjects and a group of French RA patients. Results. No significant difference in Eco RI RFLP was found between the 2 study populations: Allele frequencies were virtually identical. There was no polymorphism using Hind III. Conclusion. These results exclude TCRV γI polymorphism as a disease susceptibility marker in RA.     

生物碱类天然药物抗痛风作用及作用机制的研究进展

痛风是由于机体嘌呤代谢异常和(或)尿酸排泄障碍所致的一组异质性疾病。生物碱是一类含有氮的有机化合物,广泛存在于植物中,用于痛风等多种疾病引起的炎症反应。通过查阅国内外最新相关文献报道,对生物碱抗痛风作用及作用机制的研究进展进行综述,以期为生物碱的进一步研究和临床应用提供科学依据和理论指导。     

Type I spinal muscular atrophy patients treated with nusinersen: 4-year follow-up of motor,respiratory and bulbar function

Background

We report the 4-year follow-up in type I patients treated with nusinersen and the changes in motor, respiratory and bulbar function in relation to subtype, age and SMN2 copy number.

Methods

The study included SMA 1 patients with at least one assessment after 12, 24 and 48 months from the first dose of nusinersen. The assessments used were Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) and the Hammersmith Infant Neurological Examination (HINE-II).

Results

Forty-eight patients, with ages ranging from 7 days to 12 years (mean 3.3 years, SD 3.6 years) were included in the study. The CHOP INTEND and HINE-II scores significantly increased between baseline and 48 months (p < 0.001). When age at starting treatment subgroups (<210 days, <2 years, 2–4 years, 5–11 years, ≥12 years) were considered, the CHOP INTEND increased significantly in patients younger than 4 years at treatment, while the HINE-2 increased significantly in patients younger than 2 years at treatment. In a mixed-model analysis, age, nutritional and respiratory status were predictive of changes on both scales while SMN2 copy number and decimal classification were not.

Conclusions

Our results confirm the safety profile previously reported and support the durability of the efficacy of nusinersen at 4 years with an overall stability or mild improvement and no evidence of deterioration over a long period of time.