Surgical treatment of atlantoaxial dysplasia and scoliosis in spondyloepiphyseal dysplasia congenita: A case report.

BACKGROUND: Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant hereditary disease caused by COL2A1 mutations. SEDC primarily involves the skeletal system, with typical clinical manifestations, including short stature, hip dysplasia, and spinal deformity. Due to the low incidence of SEDC, there are only a few case reports regarding the surgical treatment of SEDC complicated with spinal deformities. CASE SUMMARY: We report a case of a 16-year-old male patient with SEDC. He presented with typical short stature, atlantoaxial dysplasia, scoliosis, and hip dysplasia. Cervical magnetic resonance imaging showed spinal canal stenosis at the atlas level and cervical spinal cord compression with myelopathy. The scoliosis was a right thoracic curve with a Cobb angle of 65°. He underwent atlantoaxial reduction, decompression, and internal fixation from C1-C2 to relieve cervical myelopathy. Three months after cervical surgery, posterior correction surgery for scoliosis was performed from T3 to L4. Scoliosis was corrected from 66° to 8° and remained stable at 2-year follow-up. CONCLUSION: This is the first case report of a patient with SEDC who successfully underwent surgery for atlantoaxial dysplasia and scoliosis. The study provides an important reference for the surgical treatment of SEDC complicated with spinal deformities.

Proteomic Comparison of Paraspinal Muscle Imbalance Between Idiopathic Scoliosis and Congenital Scoliosis.

OBJECTIVE: This study aims to compare the proteomic profiles of paraspinal muscle imbalance between idiopathic scoliosis (IS) and congenital scoliosis (CS). METHODS: Bilateral paraspinal muscles of 5 pairs of matched IS and CS patients were collected. Proteome patterns of paraspinal muscles were established. Differentially expressed proteins (DEPs) in paraspinal muscles between the convexity and the concavity were screened out. DEPs shared by both IS and CS and IS-specific DEPs were identified. Bioinformatic analyses of DEPs were performed. RESULTS: Among 105 DEPs identified in IS, 30 displayed predominant expression on the convexity, whereas other 75 exhibited predominant expression on the concavity. DEPs in IS were mainly enriched in calcium ion binding and DNA binding in gene ontology (GO) term and glycolysis/gluconeogenesis and purine metabolism in Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway. Among 48 DEPs identified in CS, 25 were predominantly expressed on the convexity and 23 on the concavity. DEPs in CS were mainly enriched in receptor activity and immune response in GO term and glycolysis/gluconeogenesis and cellular senescence in KEGG pathway. Comparison of DEPs between IS and CS identified only 8 proteins shared by both types of scoliosis. Among the 97 IS-specific DEPs, 28 were predominantly expressed on the convexity and 69 on the concavity. IS-specific genes were enriched in calcium ion binding and protein glycosylation in GO term and glycolysis/gluconeogenesis and hypertrophic cardiomyopathy in KEGG pathway. CONCLUSION: IS and CS exhibit proteomic imbalance in bilateral paraspinal muscles but share few similarities. Paraspinal muscle imbalance in IS might not be the consequence of spinal deformities.

How do orphan disease patients live during the pandemic of Omicron variant? A nationwide survey of spinal muscular atrophy patients in China.

OBJECTIVES: To investigate the challenges of patients with spinal muscular atrophy (SMA) during the Omicron variant COVID-19 pandemic. DESIGN: A cross-sectional survey was conducted in China from January 02, 2023, to January 12, 2023, using a questionnaire that covered three aspects: (1) Demographic information; (2) SMA-related information; and (3) COVID-19-related information. We recruited patients with SMA from 33 provinces. The prevalence, course, and clinical manifestations of COVID-19 were calculated. The relationships between independent and outcome variables were investigated. RESULTS: In total, 677 patients (male: 349; female: 328) were included in this study (average age = 11.40 years); 534 (78.88%) suffered from COVID-19. The most common symptoms were fever (95.51%), cough (57.87%), and sputum (49.44%). Of the infected patients, 91.57% recovered with at-home care, and 8.43% were hospitalized; 1.31% were admitted to the intensive care unit (ICU). A positive correlation was observed between the SMA severity and hospitalization rate. The ICU stay rate in patients with SMA type I was significantly higher than that in other SMA types. CONCLUSION: This is the first large sample survey to timely reveal the living situation of patients with SMA during the COVID-19 pandemic's Omicron variant. Patients with SMA type I should be paid more attention in terms of hospitalization and ICU stay.

A nomogram to predict postoperative surgical site infection of adult patients who received orthopaedic surgery: a retrospective study.

Surgical site infection is a common postoperative complication with serious consequences. This study developed a nomogram to estimate the probability of postoperative surgical site infection for orthopaedic patients. Adult patients following orthopaedic surgery during hospitalization were included in this study. We used univariate and multivariate logistic regression analyses to establish the predictive model, which was also visualized by nomogram. To evaluate the model performance, we applied the receiver operating characteristic curve, calibration curve, and decision curve analysis, which were utilized in external validation and internal validation. From January 2021 to June 2022, a total of 787 patients were enrolled in this study. After statistical analysis, five variables were enrolled in the predictive model, including age, operation time, diabetes, WBC, and HGB. The mathematical formula has been established as follows: Logit (SSI) = - 6.301 + 1.104 * (Age) + 0.669 * (Operation time) + 2.009 * (Diabetes) + 1.520 * (WBC) - 1.119 * (HGB). The receiver Operating Characteristic curve, calibration curve, and decision curve analysis presented a good performance of this predictive model. Our nomogram showed great discriminative ability, calibration, and clinical practicability in the training set, external validation, and internal validation.

Reamed versus unreamed intramedullary nailing for the treatment of femoral shaft fractures among adults: A meta-analysis of randomized controlled trials.

BACKGROUND: The purpose of this meta-analysis is to compare the merits and drawbacks between reamed intramedullary nailing (RIN) and unreamed intramedullary nailing (URIN) among adults. METHODS: We comprehensively searched PubMed, MEDLINE database through the PubMed search engine, Google Scholar, Cochrane Library, Embase, VIPI (Database for Chinese Technical Periodicals), and CNKI (China National Knowledge Infrastructure) from inception to March 2020. Outcomes of interest included nonunion rates, implant failure rates, secondary procedure rates, blood loss, acute respiratory distress syndrome (ARDS) rates, and pulmonary complications rates. RESULTS: Eight randomized controlled trials were included. The result of nonunion rates shows that the nonunion rate is significantly lower in the RIN group (RR = 0.20, 95% CI = 0.09-0.48, Z = 3.63, P = 0.0003). There were no significant differences for the risk of implant failure rates (RR = 0.55, 95% CI = 0.18-1.69, Z = 1.04, P = 0.30). The secondary procedure rates were significantly lower in the RIN group (RR = 0.28, 95% CI = 0.12-0.66, Z = 2.91, P = 0.004). The result shows that the blood loss of URIN group is significantly lower (RR = 145.52, 95% CI = 39.68-251.36, Z = 2.69, P = 0.007). The result shows that there was no significant difference in the ARDS rates (RR = 1.53, 95% CI = 0.37-6.29, Z = 0.59, P = 0.55) and the pulmonary complications rates between RIN group and URIN group (RR = 1.59, 95% CI = 0.61-4.17, Z = 0.94, P = 0.35). CONCLUSIONS: Reamed intramedullary nailing would lead to lower nonunion rate, secondary procedure rate and more blood loss. Unreamed intramedullary nailing is related to a higher nonunion rate, secondary procedure rate and less blood loss. No significant difference is found in implant failure rate, ARDS rate and pulmonary complication rate between the two groups.

Tapered Cuff versus Conventional Cuff for Ventilator-Associated Pneumonia in Ventilated Patients: A Meta-Analysis of Randomized Controlled Trials.

Background: Microaspiration of secretions around the tracheal cuff is a multifactorial process. Tracheal cuff shape might take a major part in its occurrence. The rationale for producing a taper-shaped cuff is established on the assumption that compared to a conventional cuff with a single fixed diameter, a continuum of minimum-to-maximum diameter sections might better fit the tracheal walls. Objectives: The primary objective of this meta-analysis was to compare ventilator-associated pneumonia (VAP) between tapered-cuff intubation and conventional-cuff intubation. The secondary objective was to compare intensive care unit (ICU) mortality between tapered-cuff intubation and conventional-cuff intubation. Methods: We searched the Cochrane Library, Embase, MEDLINE database through the PubMed search engine, and CINAHL from inception to April 2018. Randomized trials comparing VAP and ICU mortality between tapered-cuff intubation and conventional-cuff intubation in intubated adults were included. Two review authors assessed study quality and abstracted databasing on prespecified criteria independently. Results: We pooled summary estimates from 5 trials evaluating tapered-cuff involving 774 participants. Compared to VAP, no statistically significant difference was observed between the tapered-cuff and conventional-cuff groups (OR 0.82, CI 0.61-1.12, z = 1.24, and p=0.21). No statistically significant difference was observed between the tapered-cuff and conventional-cuff groups with ICU mortality (OR 0.77, CI 0.55-1.08, z = 1.49, and p=0.14). Conclusions: In this meta-analysis, the tapered-cuff tracheal tube may not be superior to the standard-cuff tracheal tube in reducing VAP and ICU mortality.

Comparing the effects and compliance between volume-assured and pressure support non-invasive ventilation in patients with chronic respiratory failure.

INTRODUCTION: Standard bi-level non-invasive ventilation with fixed-level pressure support (PS) delivery may not maintain ventilation during the changes in pulmonary mechanics that occur throughout day and night, so average volume-assured pressure support (AVAPS) modes that target a preset volume by adjustment of PS may be effective. OBJECTIVE: Our meta-analysis wants to compare AVAPS and pressure support non-invasive ventilation (PS-NIV) regarding arterial blood gases (ABGs), sleep efficiency and compliance. METHOD: Relevant publications indexed in PubMed, Cochrane Library, Embase, Web of Science, Wanfang Data, China National Knowledge Infrastructure and VIPI were identified. Appropriate articles identified from the reference lists of the above searches were also reviewed. We included randomized controlled trials involved the use of AVAPS and PS-NIV ventilation for chronic respiratory failure. Each included study weighted mean differences, and 95% confidence intervals (CI) were calculated for continuous outcomes. Statistical heterogeneity was assessed using the I2 value ≤ 50% were considered as no statistical heterogeneity and used fixed effects model. Otherwise, a random effects model was used. RESULTS: Eight trials were eligible. No significant difference was observed between AVAPS and PS-NIV groups to compare PaCO2 (OR -0.97, CI-2.54-0.61, P = 0.23) and PaO2 (OR -1.81, CI-4.29-0.67, P = 0.15) in ABGs. There was no significant difference between the two groups with sleep efficiency (OR -3.31, CI-7.58-0.95, P = 0.13) and visual analog scale (OR 0.32, CI-6.97-7.61, P = 0.93). CONCLUSIONS: The evidence shows there is no significant difference in clinical outcomes when comparing AVAPS and PS-NIV used for chronic respiratory failure patients.

Influence of subglottic secretion drainage on the microorganisms of ventilator associated pneumonia: A meta-analysis for subglottic secretion drainage.

BACKGROUND: The influence of the subglottic secretion drainage (SSD) on the microorganisms of ventilator associated pneumonia (VAP) is still unclear.A meta-analysis focusing on the influence of the SSD on the microorganisms of VAP. METHODS: A comprehensive search was conducted through the online studies of PubMed, Embase, Cochrane Library, Google scholar, CNKI (China National Knowledge Infrastructure), and VIPI (Database for Chinese Technical Periodicals) using specific search terms.Included studies were randomized controlled trials (RCTs) that compare the microorganisms of VAP between SSD and standard endotracheal tube care in mechanically ventilated adults. RESULTS: Nine RCTs were eligible. There was no significant difference in the rate of VAP caused by nonfermentative bacteria and enterobacteria between SSD group and control group (OR = 0.73, 95%CI, 0.53-1.01; P = .06). The episodes of VAP caused by Gram-positive cocci and Haemophilus influenzae organisms were lower in the SSD group (OR = 0.29, 95%CI, 0.18-0.48; P<0.00001). Less mean volume of SSD daily was observed in VAP group (OR = -16.97, 95%CI, -29.87-4.08; P = .010). CONCLUSION: We found SSD to be associated with significant decreases in VAP caused by Gram-positive cocci and H influenzae organisms but no significant differences in VAP caused by nonfermentative bacteria and enterobacteria. Less mean volume of SSD daily was observed in VAP group.