2020年 · 第100卷第40期

spinal muscular atrophy (SMA) is the most common neuromuscular disease in children. The main clinical features are muscle weakness and muscle atrophy caused by the degeneration of α-motor neurons in the anterior horn of the spinal cord. In this consensus, SMA specifically refers to 5q-SMA caused by the pathogenic variation of motor neuron survival gene 1 (SMN1; OMIM 600354) located at 5q13. The incidence of SMA is about 1/10 000, and the population carriage rate is about 1/50^[1]。 In 2019, mainland China launched the disease-modifying treatment drug Nosinaxan Sodium Injection, and successively published the SMA multidisciplinary management expert consensus^[2]It marks that SMA has entered a brand-new period of accurate diagnosis, treatment and management in China. Carrier and newborn screening of SMA has been routinely carried out in some countries and regions^[3,4]Some areas in China have gradually begun screening^[5,6], the SMA prevention window is further advanced.

Gut-lung microecosystem disorders and regulatory disorders play a key role in the exacerbation of chronic obstructive pulmonary disease (COPD). However, the dynamics of intestinal-pulmonary flora and its potential role in disease etiology during acute exacerbations of COPD remain poorly understood. In order to understand the dynamic changes of intestinal and pulmonary microbes in acute exacerbation of chronic obstructive pulmonary disease (AECOPD), 90 specimens (45 sputum and 45 fecal specimens each) were collected longitudinally on days 1, 7 and 4 of acute attack in 15 patients with AECOPD. The study revealed a dynamic gut-lung microbiota with changes that may be associated with worsening events such as acute exacerbation and disease progression of COPD. Antibiotic and steroid therapy may have unique effects on the gut-lung microbiota, which is associated with disease progression, but may not be associated with severity. The progression and treatment of AECOPD have a great influence on the abundance and diversity of the gut-lung microbiota. This study further confirms that the dynamic changes of intestinal and lung microbiota have a potential impact on the course of AECOPD, which may be the key to understanding the interaction between intestinal and lung, highlighting its potential as a biomarker, and may become a target for AECOPD treatment.

Patients with acute onset of chronic obstructive pulmonary disease (AECOPD) are prone to hypoxic respiratory failure. Hypoxia can destroy intestinal integrity, often manifested as increased permeability of gastrointestinal mucosal barrier, which is one of the mechanisms that promotes intestinal bacterial translocation and microbiome dysregulation, and may also be the cause of acute chronic systemic inflammation. Although systemic inflammation is an important component of AECOPD, there is no direct evidence that it is associated with increased intestinal wall permeability and gastrointestinal flora disorders. For further confirmation, a prospective study from the University Medical Center of Maastricht collected patients admitted between October 2013 and February 2014 with hypoxemia (PaO₂<8.7 kPa or oxygen saturation<93%) patients with AECOPD, excluding those with a history of gastrointestinal or renal disease, chronic heart failure, or use of non-steroidal anti-inflammatory drugs within 48 h prior to the trial. The ratios of oral lactulose/L-rhamnose (L/R), sucrose/L-rhamnose (Su/R) and sucralose/erythritol (S/E) urinary excretion were repeatedly measured at admission and during the recovery period (4 weeks after admission) to evaluate gastrointestinal permeability. A total of 17 patients with severe to severe AECOPD completed the study. L/R ratio at admission (×10³) of M (P₂₅，P₇₅) was 40.9 (29.4, 49.6), which was higher than the recovery period [27.3 (19.5 to 47.7)] (P=0.039), suggesting an increased risk of small intestinal wall permeability and dysbiosis. There were no significant differences in urine glucose levels and urine S/E and Su/R ratios between 0 and 5 h between the two measurements (PAll values>0.05). This is the first study to find increased gastrointestinal permeability during hypoxic respiratory failure in hospitalized patients with AECOPD. Therefore, maintaining gastrointestinal tract integrity, alleviating intestinal dysbiosis and bacterial colonization translocation in patients with AECOPD are new targets for future studies to mitigate disease progression.