Flagella are important protein structures on the cell surface of bacteria and the main appendage for bacterial swimming. Flagella play a crucial role in bacterial motility, chemotaxis, pathogenicity, and environmental sensing. With the development of microscopic tracking technology and flagellum visualization tools, new forms of flagellar motility and increasing roles of flagella in the physiological activities of bacteria have been discovered. This review introduces the visualization methods of flagella and the applications of these methods in studying flagellar functions, giving insights into exploring the functions of flagella and laying a theoretical foundation for its future applications in inhibiting bacterial transmission and treating bacterial infections.
Flagella/physiology* ; Bacterial Physiological Phenomena ; Chemotaxis/physiology* ; Bacteria

Objective:To understand the regional prevalence and hotspot mutations through analysis of genetic screening results for newborns with pseudohypertrophic muscular dystrophy.Methods:A total of 22 813 newborns (12 065 males and 10 748 females) born at the Women's Hospital of Nanjing Medical University from March 18, 2022, to October 31, 2023, were selected. The Dystrophin gene ( DMD) was detected using chip capture next-generation sequencing technology, followed by bioinformatics analysis. Pathogenic mutations identified were validated using multiplex ligation-dependent probe amplification (MLPA) and Sanger sequencing. Serum creatine kinase levels were also tested in suspected male patients. Descriptive analysis was applied for this study. Results:Among the 10 748 girls, 14 carriers of DMD gene were detected (0.013%), of which, nine cases were validated in the family; one case was a de novo mutation, five were inherited from the mother, and three were inherited from the father. The screening identified nine suspected patients among the boys (0.075%), and eight of them were confirmed by family validation, in which three were de novo mutations, and five were inherited from the mother. Among all identified DMD mutations, deletions were the most common one, accounting for 52.2% (12/23), incluling four cases of deletion at 49-51 exon. Conclusions:Newborn genetic screening based on chip capture next-generation sequencing technology combined with bioinformatics analysis is helpful in early detection of patients and carriers of pseudohypertrophy muscular dystrophy. According to the preliminary statistics, the incidence rate of DMD/BMD in this area is 1/1 341 male infants and the hotspot mutation is exon 49 to 51 deletion.

Duchenne muscular dystrophy (DMD) is a severe neuromuscular genetic disorder characterized by progressive muscle atrophy, with most patients succumbing to heart or respiratory failure around the age of 20. This article systematically reviews the discovery, pathological research, diagnosis, and development of newborn screening for DMD. Since the 19th century, pioneers such as Bell, Conte, Meryon, Duchenne, and Gowers have laid the foundation for understanding this disease through their discoveries and descriptions of DMD. In the 1980s, molecular biology research further elucidated the pathological mechanisms of DMD and established diagnostic methods. Since the 1970s, newborn screening for DMD has flourished, evolving through various stages including creatine kinase testing, muscle-type creatine kinase isoenzyme testing, and genetic screening. With ongoing research, early screening and diagnostic protocols for DMD have been continuously refined and gradually implemented in clinical practice.

OBJECTIVE: To retrospectively analyze the clinical efficacy of anterior cruciate ligament (ACL) reconstruction combined with anterolateral complex repair and ACL reconstruction combined with ALL reconstruction in the treatment of anterior cruciate ligament injuries with high-grade pivot shift. METHODS: From January 2018 to June 2022, 49 patients combined ACL and ALL injuries with high-grade pivot shift were retrospectively studied from three hospitals, 29 of them underwent ACL reconstruction with anterolateral complex repair (repair group), including 23 males and 6 females with an average age of (27.5±4.8) years old, ranged from 20 to 37 years old;the injured sides were 13 on the left and 16 on the right, and 11 patients were suffered with meniscus injury. The other 20 patients underwent ACL and ALL reconstruction (reconstruction group) including 17 males and 3 females with the mean age of (27.1±4.5) years old, ranged from 20 to 38 years old;the injured sides were 8 on the left and 12 on the right, and 6 patients were suffered with meniscus injury. Knee stability (pivot shift test, KT-2000), range of motion, knee function (Lysholm scoring scale, Cincinnati sports activity scale (CSAS) scoring scale, and Tegner activity level score between two groups were compared. RESULTS: A total of 49 patients were followed up, the repair group receiving 13 to 20(15.3±1.8) months and the reconstruction group receiving 12 to 21(16.0±2.2) months. There was no statistically significant difference in the preoperative pivot shift test grading distribution between two groups (P>0.05). At the last postoperative follow-up, there were 24 patients with grade 0 and 5 patients with grade 1 in the repair group, and there were 18 patients with grade 0 and 2 patients with grade 1 in the reconstruction group, there is no significant difference in the distribution of axial shift test grading between two groups(P>0.05). The preoperative KT-2000 tibial displacement of two groups were (9.39±0.77) mm (repair group) and (9.14±0.78) mm (reconstruction group) respectively, with no statistically significant difference (P>0.05). At the final postoperative follow-up, there were 24 patients with KT-2000 tibial displacement <3 mm and 5 patients with 3 to 5 mm in the repair group, while 18 patients with <3 mm and 2 patients with 3 to 5 mm in the reconstruction group, KT-2000 tibial displacement distribution of two groups was no significant difference (P>0.05), but the KT-2000 tibial displacement in the reconstruction group (1.30±0.86) mm was significantly smaller than that in the repair group (1.99±1.11) mm (P<0.05). The final postoperative follow-up range of motion of the contralateral side knee between two groups was no significant difference (P>0.05). The range of motion of the suffering knee in the repair group was less than that in the reconstruction group (P<0.05). There was no significant difference in preoperative Lysholm and CSAS scores between two groups (P>0.05). At the final postoperative follow-up, both groups showed significant improvement in Lysholm and CSAS scores, while the Lysholm and CSAS scores of the reconstruction group were better than those of the repair group, and the difference was statistically significant (P<0.05). Significant differences was found in Tegner scores between two groups, which 16 patients in the repair group returned to their pre-injury activity level, and 17 patients in the reconstruction group returned to their pre-injury level (P<0.05). CONCLUSION Compared to anterolateral complex repair, combined ACL and ALL reconstruction in the treatment of ACL injuries with high-grade pivot shift results in better knee joint function and stability. This is advantageous in reducing the risk of ACL reconstruction failure.
Humans ; Male ; Female ; Adult ; Anterior Cruciate Ligament Reconstruction/methods* ; Anterior Cruciate Ligament Injuries/surgery* ; Young Adult ; Retrospective Studies ; Anterior Cruciate Ligament/surgery* ; Range of Motion, Articular

Objective:To establish the cut-off value of tetradecenoyl carnitine (C14∶1)/dodecenoyl carnitine(C12∶1) based on non-derivatized tandem mass spectrometry (MS/MS), and to explore the application value of C14∶1/C12∶1 to screen newborns for very long chain acyl-CoA dehydrogenase deficiency (VLCADD), determining the best combination of indicators for screening VLCADD.Methods:This retrospective study included data from 17 newborns with VLCADD detected by MS/MS and confirmed by acyl-CoA dehydrogenase very long chain ( ACADVL) gene detection, and 423 507 newborns with normal MS/MS results. The data from these newborns were collected from January 2014 to December 2021 as the newborns received neonatal screening in Nanjing Neonatal Disease Screening Center and Suzhou Neonatal Disease Screening Center. All newborns were divided into 3 groups: all newborns group, full-term newborns group and normal-birth-weight newborns group, and the cut-off values of C14∶1/C12∶1 for VLCADD in these 3 groups were determined by their receiver operating characteristic (ROC) curves individually. With these results, a total of 5 interpretation schemes were composed using different indicators alone or jointly: scheme 1 being C14∶1/C12∶1, scheme 2 being C14∶1, scheme 3 being C14∶1+C14∶1/C2+C14∶1/C16, scheme 4 being C14∶1/C12∶1+C14∶1, and scheme 5 being C14∶1/C12∶1+C14∶1+C14∶1/C2+C14∶1/C16. The detection rate, false-positive rate and positive predictive value of each scheme were calculated, and their screening efficiencies were statistically compared by Chi-square tests. Results:The cut-off values of C14∶1/C12∶1 for VLCADD in the 3 newborn groups were all 2.80. The detection rates of VLCADD with all 5 interpretation schemes were 17/17. Scheme 1 had the highest false positive rate [26.15‰ (11 075/423 524)] and the lowest positive predictive value [0.15% (17/11 092)]. Scheme 4 (Scheme 5) had the lowest false positive rate [0.02‰ (10/423 524)] and the highest positive predictive value [62.96% (17/27)]. Comparing scheme 4 (Scheme 5) with scheme 1, scheme 2 and scheme 3, the differences of false positive rate (χ2=302.30,11 191.50,32.06) and positive predictive value (χ2=102.51,3 485.61,13.83) were statistically significant (all P<0.001). Conclusion:C14∶1/C12∶1 was an effective auxiliary interpretive indicator for VLCADD in newborn screening, and the combination of C14∶1/C12∶1+C14∶1 was tested to be the best indicator for VLCADD screening based on non-derivatized tandem mass spectrometry.

Previous studies have revealed that patients with hypertrophic cardiomyopathy (HCM) exhibit differences in symptom severity and prognosis, indicating potential HCM subtypes among these patients. Here, 793 patients with HCM were recruited at an average follow-up of 32.78 ± 27.58 months to identify potential HCM subtypes by performing consensus clustering on the basis of their echocardiography features. Furthermore, we proposed a systematic method for illustrating the relationship between the phenotype and genotype of each HCM subtype by using machine learning modeling and interactome network detection techniques based on whole-exome sequencing data. Another independent cohort that consisted of 414 patients with HCM was recruited to replicate the findings. Consequently, two subtypes characterized by different clinical outcomes were identified in HCM. Patients with subtype 2 presented asymmetric septal hypertrophy associated with a stable course, while those with subtype 1 displayed left ventricular systolic dysfunction and aggressive progression. Machine learning modeling based on personal whole-exome data identified 46 genes with mutation burden that could accurately predict subtype propensities. Furthermore, the patients in another cohort predicted as subtype 1 by the 46-gene model presented increased left ventricular end-diastolic diameter and reduced left ventricular ejection fraction. By employing echocardiography and genetic screening for the 46 genes, HCM can be classified into two subtypes with distinct clinical outcomes.

A 82-year-old man was admitted to hospital with fever, unresponsiveness and elevated hypersensitive C-reactive protein, neutrophile granulocyte. Ceftriaxone was administrated by intravenous dripping in the emergency room, but the effect is not satisfied. Following his admission to the ward, anti-infection treatment started and antibiotics including cefoperazone sulbactam were given. Elizabethkingia meningoseptica was identified by blood culture and 16S rRNA sequencing. The lumbar puncture showed that cerebrospinal fluid pressure was 80 mmH₂O (1 mmH₂O=0.0098 kPa), and biochemical results were normal. After 11 days of anti-infection treatment, the patient was discharged with negative blood culture,and his hypersensitive C-reactive protein and neutrophile granulocyte declined. The patient received levofloxacin tablets for anti-infection treatment for 14 d after discharge, and no signs of infection were observed in three months' following up.

OBJECTIVE: To investigate the correlation between serum vitamin D level and clinical outcomes after repair of rotator cuff tears. METHODS: A total 122 patients who met the inclusion criteria and were followed up for 12 months from March 2018 to March 2020 were analyzed retrospectively, including 50 males and 72 females with an average age of(62.10±8.39) years old (ranged, 34 to 82 years old). All patients were divided into deficiency group(vitamin D<20 μg/L) and control group(vitamin D≥20 μg/L), including 62 cases in the deficiency group, with vitamin D (14.80±3.18) μg/L;60 cases in the control group, with vitamin D(25.17±5.64) μg/L. The two groups were compared in terms of age, gender, body mass index(BMI), tear size, degree of retraction, degree of fatty infiltration, injury factors, postoperative pain VAS score, postoperative shoulder joint function score, and re-tear rate. The age of all patients was divided into two categories:<60 years old and ≥60 years old;BMI was divided into <24 kg/m² and ≥ 24 kg/m²;tear size was divided into ≤3 cm and >3 cm;retraction degree was divided into ≤2 cm and >2 cm;fat infiltration was divided into ≤2 grade and >2 grade;and the course of the disease was ≤3 months and >3 months. The correlation between Sugaya re-tear type and the variables listed above were analyzed and calculated. RESULTS: There were no major complications such as joint infection, anchor withdrawal and revision surgery in any of the 122 patients who were followed up on. There were no statistical differences in age, gender, injury factor, BMI, tear size, degree of retraction, degree of fatty infiltration, and duration of disease between the two groups (P>0.05). The Constant-Murley scores, UCLA scores, and ASES scores of the two groups all improved considerably after surgery(P<0.05);however, there was no statistical differences in the postoperative shoulder function scores between the two groups (P>0.05). There was significant difference in VAS between the two groups 1 month and 3 months after operation, with vitamin D deficiency group scoring higher, and there was no significant differences 6 and 12 months after operation. Tear size(>3 cm), degree of retraction(>2 cm), degree of fatty infiltration(>2 degree) were all shown to be the independent risk factors for retear after surgery by Logistic regression analysis(P<0.05). The comparison between the two groups of patients using a 2×5 row list showed that the Sugaya classification of rotator cuff re-tear(grade Ⅰto Ⅴ) between the vitamin D deficiency group and the control group was statistically different(t=14.228, P=0.007). It was discovered that the Sugaya classification after surgery was statistically different between the two groups. CONCLUSION Vitamin D deficiency is not correlated with clinical function scores and re-tear rate, however it is associated with the early postoperative pain (1 and 3 months) and the quality of rotator cuff healing (Sugaya classification) after surgery.
Adult ; Aged ; Aged, 80 and over ; Arthroscopy ; Female ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Rotator Cuff Injuries/surgery* ; Treatment Outcome ; Vitamin D

OBJECTIVE: To analyze the clinical features and genetic variants in four neonates with very long chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency. METHODS: Neonates with a tetradecenoylcarnitine (C14:1) concentration at above 0.4 μmol/L in newborn screening were recalled for re-testing. Four neonates were diagnosed with VLCAD deficiency by MS-MS and genetic testing, and their clinical features and genotypes were analyzed. RESULTS: All cases had elevated blood C14:1, and the values of first recalls were all lower than the initial test. In 2 cases, the C14:1 had dropped to the normal range. 1 case has remained at above 1 μmol/L after the reduction, and the remainder one case was slightly decreased. In total eight variants of the ADACVL genes were detected among the four neonates, which included 5 missense variants and 3 novel variants (p.Met344Val, p.Ala416Val, c.1077+6T>A). No neonate showed salient clinical manifestations. CONCLUSION Above findings have enriched the spectrum of ADACVL gene mutations and provided a valuable reference for the screening and diagnosis of VLCAD deficiency.
Acyl-CoA Dehydrogenase/genetics* ; Acyl-CoA Dehydrogenase, Long-Chain ; Congenital Bone Marrow Failure Syndromes ; Genetic Testing ; Humans ; Infant, Newborn ; Lipid Metabolism, Inborn Errors ; Mitochondrial Diseases ; Muscular Diseases ; Tandem Mass Spectrometry

Objective:To identify the possible pathogenesis of a neonate with carnitine palmitoyltransferase 1A (CPT1A) deficiency by analyzing genetic variants.Methods:Potential variants were detected with an Ion Torrent semiconductor sequencer using a gene panel for inherited diseases, and candidate variants were verified by Sanger sequencing.Results:Genetic testing indicated that the neonate has carried c. 1895T>A(p.Leu632X) and c. 1153G>A(p.Ala385Thr) compound heterozygous variants of the CPT1A gene, which were inherited from his father and mother, respectively. Both variants were verified as novel through the retrieval of HGMD database, ClinVar database and literature. According to the standards and guidelines of the American College of Medical Genetics and Genomics, the c. 1895T>A variant was predicted as pathogenic(PVS1+ PM2+ PP4) and c. 1153G>A as likely pathogenic (PM1+ PM2+ PM3+ PP3). Conclusion:The c. 1895T>A and c. 1153G>A compound heterozygous variants of the CPT1A gene might underlie the pathogenesis in this child. Above results have provided a basis for clinical diagnosis and genetic counseling, and enriched the variant spectrum of the CPT1 deficiency.