Volume 100 ·  Issue 40 ·  2020

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.

To compare the effect of myotomy and coronary artery bypass grafting (CABG) to treat symptomatic myocardial bridges (MBs) of the left anterior descending artery (LAD).

From January 2009 to December 2017, a total of 54 eligible patients [34 males, 20 females, with a median age of 60 (51, 64) years old] with symptomatic MBs of LAD who underwent myotomy (31 patients) or CABG (23 patients) at the Department of Cardiovascular Surgery of Zhongshan Hospital, Fudan University were included in the study. Surgical effect of the two groups were compared and multivariate logistic regression models were used to analyze the risk factors of major adverse cardiac events (MACE).

No significant differences between the two groups were observed with respect to age, gender, risk factors of coronary artery disease (CAD), symptoms, angiographic findings of MBs and preoperative cardiac status, and 0 surgery-associated death was observed. Among the 31 myotomy patients, 4 patients underwent off-pump myotomy (including one patient who underwent urgent conversion from off-pump to on-pump surgery due to massive hemorrhaging secondary to the right ventricular perforation), and the remaining 27 cases received myotomy under cardiopulmonary bypass with cardiac arrest. All 23 bypass surgery patients underwent off-pump CABG surgery with in situ left internal mammary artery (LIMA) grafting to the distal LAD. After LIMA grafting, the median graft flow was 14 (11, 20) ml/min. During a median follow-up of 26 months, 11 patients developed MACEs (7.4% for myotomy vs 40.9% for bypass surgery, P=0.007). Surgical strategy (CABG surgery vs myotomy) was an independent risk factor for MACE (OR=3.681, 95% CI: 1.812-8.685, P=0.011). Compared with myotomy, CABG surgery had a significantly higher incidence of adverse angiographic results (3.7% of residual compression vs 40.9% of LIMA graft failure, P=0.003). Among 10 CABG surgery patients with LAD-MBs and proximal coronary obstruction, all LIMA grafts were patent, though one case reported recurrent angina pectoris 2 years after the surgery which was relieved after drug therapy.

For patients with symtomatic LAD-MBs, myotomy may be associated with favorable mid-term outcomes and angiographic results. However, CABG surgery should be recommended for those with concomitant proximal obstruction of LAD.

To summarize the etiology and surgical treatment experience of tricuspid valve disease due to permanent pacemaker lead.

The medical records of 22 patients who underwent tricuspid valve operation for tricuspid valve disease due to permanent cardiac pacemaker lead from January 2008 to December 2017 were retrospectively reviewed. There were 12 males and 10 females, with a mean age of (62.6±12.1) years old (45-82 years old). All patients underwent tricuspid valve surgery via open thoracotomy under general anesthesia, including 8 patients through median thoracotomy approach, 4 patients through right mini-thoracotomy approach, and 10 patients with endoscopy-assisted and totally endoscopic technique. Moreover, 8 patients underwent tricuspid valve replacement, and 14 patients received tricuspid valve repair.

During the operation, 10 cases of severe tricuspid regurgitation were detected due to valve and subvalvular structures dysfunction involved in the pacing electrode, 7 cases showed tricuspid annulus dilation, and pacing electrode-related infective endocarditis were involved in the tricuspid valve of 5 cases. Compared with conventional median thoracotomy surgery, the amount of postoperative drainage fluid and hospitalization time after minimally invasive surgery (including right mini-thoracotomy and endoscopic surgery) were significantly reduced [281(120, 489) ml vs 368(180, 560) ml, P=0.02; 9.2(4.8, 14.5) d vs 11.2(6.3, 16.9) d, P=0.03]. Postoperative echocardiographic data showed that the size of the right atrium and ventricle in these patients was significantly reduced compared with preoperative data, and their cardiac function were normal. There was no difference of pacing electrode parameters between pre-and postoperative period. All 22 patients were cured and discharged, with no valve-and pacemaker-related complications.

Patients with tricuspid valve disease due to permanent cardiac pacemaker lead should actively undergo surgery including tricuspid replacement or repair according to different etiologies, which exhibit satisfactory outcomes. Minimally invasive endoscopic tricuspid surgery is a new technique for the treatment of isolated tricuspid valve disease, with less surgical trauma and faster recovery.

To assess the impacts of incomplete revascularization following off-pump coronary artery bypass grafting (OPCABG) on perioperative outcomes in octogenarians.

A retrospective analysis of 242 octogenarian patients with coronary artery disease (CAD) hospitalized in Beijing Anzhen Hospital from June 2008 to July 2016 was performed. These patients were divided into the complete revascularization group (n=181) and the incomplete revascularization group (n=61) depending on whether they underwent complete revascularization. The impacts of incomplete revascularization following OPCABG on perioperative outcomes were summarized and compared between the two groups.

Among the 242 patients over 80 years who received OPCABG, there were 198 males (81.8%). Compared to the complete revascularization group, those in the incomplete revascularization group were older [(83.2±1.5) vs (81.5±1.1) years old, P=0.03], with more carotid stenosis (44.3% vs 25.4%, P=0.01), more involved in the diagonal and circumflex branch of coronary artery (49.2% vs 17.1%, P=0.01; 83.6% vs 70.2%, P=0.03), shorter operative time [(4.1±1.7) h vs (4.7±1.2) h, P=0.03), longer preoperative [(7.1±2.3) d vs (5.2±2.0) d, P=0.01] and total hospitalization time [(16.3±6.8) d vs (12.5±4.2) d, P=0.01], however, the differences of the in-hospital mortality and incidence of other perioperative complications were not statistically significant between the two groups (all P>0.05).

Compared with complete revascularization, incomplete revascularization following OPCABG in CAD patients over 80 years old does not increase the perioperative mortality and the incidence of other complications, and it reduces the operative time. However, it increases the time of preoperative and total hospital stay.

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.

To investigate the feasibility and clinical significance of a continuous auscultation recorder of bowel sounds based on artificial intelligence in monitoring the bowel sounds.

From November 1,2018 to August 12,2019, a continuous auscultation recorder of bowel sounds was applied to monitor the perioperative bowel sounds of 31 patients undergoing colorectal surgery, in order to discovery underlying rules which might be used to guide clinical practice.

After the operation, the bowel sounds continued to exist for (1.8±0.8) h, and then gradually weakened or disappeared, and recovered gradually after (11.2±3.5) h. The first exhaust and the first defecation were detected at the time of (22.7±5.8) h and (28.7±6.9) h after surgery, respectively. The bowel sounds rate increased after eating, and decreased significantly after exhaust/defecation.

The continuous auscultation recorder of bowel sounds based on artificial intelligence was safe and effective, which can afford help to clinical evaluation.

To investigate the clinical efficacy and safety of one-time percutaneous transhepatic establishment of intrahepatic bile duct sinus, choledochoscope combined with holmium laser lithotripsy in elderly patients with hepatolithiasis combined with benign stricture.

The clinical data of 56 elderly patients diagnosed with intrahepatic bile duct stones combined with stricture in our hospital from January 2018 to January 2019 were collected. All patients underwent PTCD puncture and drainage, and simultaneously expanded the punctured sinus channels step by step, intrahepatic bile duct stones lithotripsy and lithotomy were performed under choledochoscope combined with holmium laser. The intraoperative operation and postoperative complications were analyzed.

The sinus tract was established in 53 patients, the stones were removed, and the stenosis was relieved. Two cases of puncture bleeding and 1 case of bleeding when the stenosis was relieved by holmium laser and the surgery was timely transferred. The patients received 4(2-8) times of laser lithotripsy, and it took 30(28-32) min for each treatment. The T tubules were removed when colour Doppler ultrasound and choledochography were rechecked well. The patients were followed-up for an average of 6 months with the liver function and cholerythrin recovered.

The one-time establishment of sinus tract combined with choledochoscope holmium laser provides a new therapeutic approach for the elderly patients with hepatolithiasis and benign stricture who cannot tolerate surgery.

To evaluate the feasibility of transient elastography (FibroTouch) in obese children and to investigate the liver characteristics of obese children based on FibroTouch.

Children (5-18 years of age) from the Guangzhou Women and Children′s Medical Center were examined by FibroTouch. The fat attenuation parameter (FAP) was used to assess liver fat deposition, and liver stiffness measurement (LSM) was used to assess liver fibrosis. The children were divided into obesity group (n=67) and non-obesity group (n=139). The FAP, LSM, and their influencing factors were analysed in the obese group.

The total effective rate of FibroTouch in non-sedated children aged 5-18 years (n=229) was 97.8%. The FAP value 259.4 (235.9-275.5) dB/m in obese children was significantly higher than that in the control group 178.1 (168.7-195.6) dB/m, (Z=-10.586, P<0.001). The LSM value in obese children 5.9 (4.5-7.5) kPa was significantly higher than that in non-obese children 3.2 (2.3-4.1) kPa, (Z=-8.832, P<0.001). The proportion of liver fibrosis in obese group was 30%, and that of nonalcoholic fatty liver was 65.7%. Logistic regression analysis showed that BMI percentile (≥ 95%) was an independent factor for significant liver fibrosis (OR=1.267, 95%CI: 1.056-1.519, P=0.011) and nonalcoholic fatty liver disease (OR=1.248, 95%CI: 1.007-1.546, P=0.043).

FibroTouch can be successfully applied to obese children. Fibrotouch can accurately evaluate the liver fibrosis and fat attenuation parameters in obese children. Obese children have higher FAP and LSM, which increase the risk of non-alcoholic fatty liver and liver fibrosis.

Explore the application of plasma glucosylsphingosine level in the follow-up treatment of patients with Gaucher disease.

Two groups of patients with Gaucher disease were enrolled, who regularly received imiglucerase treatment in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine between January 2017 and July 2020. Group 1 was 6 initially treated patients, including 1 case of chitotriosidase deficiency, aged 10-43 years old, 4 females and 2 males. The blood routine test, chitotriosidase activity and plasma glucosylsphingosine level were measured during pre-and post-treatment. Group 2 were 6 cases of Gaucher disease including 3 cases of chitotriosidase deficiency, who received long-term specific treatment in the same hospital, aged 17 to 32 years, 2 females and 4 males. The plasma glucosylsphingosine level was detected in the follow-up treatment during January 2017 to July 2020.

Patients in group 1 had a significant increase in plasma platelets after 12 months of treatment (P<0.05), and also a significant increase in plasma hemoglobin after 30 months of treatment (P<0.05). The chitotriosidase activity of 5 patients in group 1 significantly decreased after 18 months of treatment (P<0.05), the median value of the chitotriosidase activity decreased by 7 278 nmol·ml^-1·h^-1 at 30 months of treatment. While only 3 months after treatment, the plasma glucosylsphingosine levels of 6 patients in group 1 decreased significantly (P<0.05), the median value of the glucosylsphingosine levels decreased by 259.7 μg/L at 30 months of treatment. The plasma glucosylsphingosine levels in group 1 patients were positively correlated with chitotriosidase activity, with spearman of 0.863, P<0.001. In group 2, 6 patients with Gaucher disease that had been treated for a long period of time, showed normal peripheral blood routine tests, normal liver and spleen volume. However, the plasma glucosphingosine levels in group 2 patients decreased significantly during 2017-2020 (P<0.05). Compare to the initial values, the median value of the last glucosphingosine levels in group 2 patients had been reduced by 23.4 μg/L.

The detection of plasma glucosylsphingosine levels in patients with Gaucher disease could be used for short-term and long-term follow-up of treatment.

To explore correlative factors and construct predictive model of intestinal flora imbalance in patients with acute exacerbation of Chronic Obstructive Pulmonary Disease (COPD).

The patients in acute exacerbation stage of COPD (AECOPD) hospitalized in Yixing People′s Hospital from January 1 to December 31, 2019 were included. According to the clinical symptoms and results of fecal examination, the subjects were divided into case group (n=45) and control group (n=83). Multivariate logistic regression was used to analyze the correlative factors of intestinal flora imbalance in AECOPD patients. The prediction model of intestinal flora imbalance in patients with AECOPD was constructed according to the results of factor logistic regression analysis, and the effectiveness of the prediction model was evaluated by receiver operating characteristic (ROC) curve analysis.

The ages of subjects in case group and control group were (76±9) and (74±8) years old, respectively, among which males accounted for 80.0% (36/45) and 69.9% (58/83), respectively. The multivariate logistic regression model analysis showed that serum albumin concentration, frequency of acute exacerbation ≥2 times/year, complicated with chronic cor pulmonale and diabetes mellitus were correlative factors of intestinal flora imbalance in patients with AECOPD. The OR (95%CI) were 0.98 (0.80-0.97), 3.70 (1.79-11.72), 2.62 (1.46-10.80) and 3.85 (1.17-8.58), respectively. The prediction model of intestinal flora imbalance was logit P=3.858-0.13×serum albumin consentration+1.52×acute exacerbation ≥2 times/year+1.379×chronic cor pulmonale+1.155×diabetes mellitus. The area under the ROC curve of this model was 0.847 and the sensitivity and specificity of the prediction model were 88.9% and 71.1%, respectively.

Serum albumin, frequency of acute exacerbation ≥2 times/year, complicated with chronic cor pulmonale and diabetes mellitus are correlative factors of intestinal flora imbalance in patients with AECOPD. The predictive model shows high clinical value in predicting intestinal flora imbalance in patients with AECOPD.

To compare the prevalence of anxiety among old people before and during the COVID-19 epidemic in China, and to provide scientific evidence for psychological intervention of the elderly during public health emergencies.

In 2019, the National Psychological Care Project for the Elderly was launched, covering 818 communities across the country, and 188 407 subjects received psychological assessment. In April and May 2020, a convenient sample of 6 467 aged 65 and above subjects were followed up on the anxiety status and its influencing factors during the epidemic period by using structurized questionnaire. Data collection and management were carried out using the national elderly psychological care project data collection platform. McNemar test was used to compare the difference of the prevalence of anxiety among elderly before (October 2019 to January 23, 2020) and during the epidemic (April-May 2020). The difference of the prevalence of anxiety among elderly with different characteristics was compared by chi square test. The influencing factors of anxiety before and during the epidemic situation were analyzed by multivariate logistic regression model.

The prevalence of anxiety symptoms in the elderly population was 4.95% (95%CI: 4.42%-5.48%) before the outbreak of COVID-19, and 10.10% (95%CI: 9.36%-10.83%) during the epidemic which was twice as high as before the outbreak. The difference was statistically significant (P<0.05). Multivariate logistic regression analysis showed that the risk factors of anxiety symptoms before the outbreak were with one underlying disease (OR=1.57, 95%CI: 1.05-2.37), with two or more underlying diseases (OR=3.10, 95%CI: 2.13-4.51), and the protective factors were with hobbies, good relationship between children, good relationship with spouse, positive aging attitude and good psychological resilience (all P<0.05). The risk factors of developing anxiety symptoms during the epidemic were living in rural areas (OR=1.77, 95%CI: 1.42-2.20), participating in social activities regularly (OR=1.23, 95%CI: 1.02-1.48), having a good relationship with friends (OR=1.42, 95%CI: 1.11-1.82) and were quarantined or people around were quarantined for medical observation (OR=2.80, 95% CI: 1.90-4.13).

The COVID-19 epidemic leads to a double increase in anxiety among the elderly. We should pay more attention to the psychological state of the elderly in rural area and who is being quarantined or people around being quarantined for medical observation.